{ "data": [ { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/e0f90a49-fd56-4a6e-97a3-d0cc9611d193/doc/sepio/version/1.2.0", "assertionMethod": { "type": "VariantPathogenicityInterpretationGuideline" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0005021", "id": "MONDO:0005021", "label": "dilated cardiomyopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/120", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "120", "label": "BS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": 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"type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1768/1770", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1769", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1768", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1588", "evidenceItem": [ { "@id": 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"CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "No functional data", "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": 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}, "id": "110", "label": "PS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/111", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "111", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "SUMMARY: This variant has been reported as a de novo occurrence in 1 individual with dilated cardiomyopathy and myopathy features (PM6; Partners LMM ClinVar SCV000059632.5). Additionally, this variant reportedly segregated with disease in 2 affected family members (Partners LMM ClinVar SCV000059632.5). \n\nLMM: 1 de novo occurrence (parentage not confirmed) in 1 individuals with DCM and myopathy with additional segregation in 2 affected family members with XXX.\n\nHas NOT been observed by any other labs (Invitae, OMGL, Ingles, Ambry, ARUP, CHEO, GeneDx)\n\nGoogle Scholar search found Wang 2018 (PMID: 29687901) which lists this variant, but only cites occurrence in Dalin 2017 (PMID: 27886618), which appears to only reference the DCM case submitted by the VCEP in 2016 and does not contribute any new additional probands. No additional literature listed in HGMD.", "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/112", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "112", "label": "PS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/116", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "116", "label": "BP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/100", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "100", "label": "PP3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "Alamut tools (SIFT, MutationTaster, and PolyPhen2) are supportive of damaging, while AlignGVGD is tolerated. Sarcomere polyphen calls Path. Amino acid is conserved across 100 vertebrates in UCSC with good alignments. REVEL score also is strongly supportive of damaging.", "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1678", "evidenceItem": [ { "@id": 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"label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1798/1800", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1799", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1798", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1672", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1673", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/106", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "106", "label": "PM6", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1672/1674", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "LMM: Assumed de novo occurrence in case with DCM and myopathy (SCV000059632)", "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1672/1674", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1673", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1672", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1828", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1829", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/109", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "109", "label": "PS3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "No functional data", "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1828", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/120", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "120", "label": "BS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1768", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1769", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/121", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "121", "label": "BS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1768/1770", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1768/1770", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1769", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1768", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1589", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/122", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "122", "label": "BS3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "No functional data", "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1766", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/110", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "110", "label": "PS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/111", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "111", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "SUMMARY: This variant has been reported as a de novo occurrence in 1 individual with dilated cardiomyopathy and myopathy features (PM6; Partners LMM ClinVar SCV000059632.5). Additionally, this variant reportedly segregated with disease in 2 affected family members (Partners LMM ClinVar SCV000059632.5). \n\nLMM: 1 de novo occurrence (parentage not confirmed) in 1 individuals with DCM and myopathy with additional segregation in 2 affected family members with XXX.\n\nHas NOT been observed by any other labs (Invitae, OMGL, Ingles, Ambry, ARUP, CHEO, GeneDx)\n\nGoogle Scholar search found Wang 2018 (PMID: 29687901) which lists this variant, but only cites occurrence in Dalin 2017 (PMID: 27886618), which appears to only reference the DCM case submitted by the VCEP in 2016 and does not contribute any new additional probands. No additional literature listed in HGMD.", "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/112", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "112", "label": "PS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/116", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "116", "label": "BP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/10/13", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1684", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002", "metadata": { "created": "2024-09-27T22:31:11.179Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Fri, 27 Sep 2024 22:31:11 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.1.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "e0f90a49-fd56-4a6e-97a3-d0cc9611d193", "variant": { "@id": "https://reg.genome.network/allele/CA016422", "id": "CAR:CA016422", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000257.3:c.5726G>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000257.3(MYH7):c.5726G>C (p.Arg1909Pro)" } ], "type": "CAR" } }, { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/e0f90a49-fd56-4a6e-97a3-d0cc9611d193/doc/sepio/version/1.0.0", "assertionMethod": { "type": "VariantPathogenicityInterpretationGuideline" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0005021", "id": "MONDO:0005021", "label": "dilated cardiomyopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1766", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/110", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "110", "label": "PS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/111", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "111", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "SUMMARY: This variant has been reported as a de novo occurrence in 1 individual with dilated cardiomyopathy and myopathy features (PM6; Partners LMM ClinVar SCV000059632.5). Additionally, this variant reportedly segregated with disease in 2 affected family members (Partners LMM ClinVar SCV000059632.5). \n\nLMM: 1 de novo occurrence (parentage not confirmed) in 1 individuals with DCM and myopathy with additional segregation in 2 affected family members with XXX.\n\nHas NOT been observed by any other labs (Invitae, OMGL, Ingles, Ambry, ARUP, CHEO, GeneDx)\n\nGoogle Scholar search found Wang 2018 (PMID: 29687901) which lists this variant, but only cites occurrence in Dalin 2017 (PMID: 27886618), which appears to only reference the DCM case submitted by the VCEP in 2016 and does not contribute any new additional probands. No additional literature listed in HGMD.", "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/112", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "112", "label": "PS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/116", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "116", "label": "BP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/100", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "100", "label": "PP3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "Alamut tools (SIFT, MutationTaster, and PolyPhen2) are supportive of damaging, while AlignGVGD is tolerated. Sarcomere polyphen calls Path. Amino acid is conserved across 100 vertebrates in UCSC with good alignments. REVEL score also is strongly supportive of damaging.", "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/ei/1/1679", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "contributionDate": { "date": "2021/8/25", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/101", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "101", "label": "PP1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA016422/MONDO:0005021/002/el/0/1678/1680", "evidenceItem": [ { "@id": 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"contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA016422/MONDO:0005021/002/ci/CA016422/MONDO:0005021/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002/0/1588", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA016422/MONDO:0005021/002", "metadata": { "created": "2024-09-27T22:15:05.295Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Fri, 27 Sep 2024 22:15:04 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "e0f90a49-fd56-4a6e-97a3-d0cc9611d193", "variant": { "@id": "https://reg.genome.network/allele/CA016422", "id": "CAR:CA016422", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000257.3:c.5726G>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000257.3(MYH7):c.5726G>C (p.Arg1909Pro)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-04-08T12:20:04.139Z" } }, "status": { "code": 200, "name": "OK" } }