{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/454fe219-c891-4f46-b624-4e5950727a16/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1615403520", "label": "ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 2.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100084", "id": "MONDO:0100084", "label": "alpha-actinopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1837", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/ei/1/1838", "contribution": [ { "agent": { "@id": 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"CG-PCER:curatorInference/CA10575963/MONDO:0100084/147/ci/CA10575963/MONDO:0100084/147.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "comments": "Not identified in a case with an alternate molecular basis for disease", "contributionDate": { "date": "2026/9/28", "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": "CA10575963/MONDO:0100084/147/ci/CA10575963/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1579/1581", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/1/1580", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1579", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/ei/1/1655", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2026/9/28", "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/0079", "defaultStrength": { "@id": 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"type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1630", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/ei/1/1631", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2026/9/28", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": 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"SEPIO:0000220", "label": "Pathogenic Very Strong" }, "id": "0017", "label": "PVS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10575963/MONDO:0100084/147/ci/CA10575963/MONDO:0100084/147.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "comments": "Missense variant, criteria not applicable", "contributionDate": { "date": "2026/9/28", "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": "CA10575963/MONDO:0100084/147/ci/CA10575963/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1594", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2026/9/28", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": 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"EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2026/9/28", "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/008", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "008", "label": "PM5", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10575963/MONDO:0100084/147/ci/CA10575963/MONDO:0100084/147.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "comments": "PM5 not applicable: (ACTA1):c.922T>C (p.Tyr308His) VUS in ClinVar, unpublished, absent from gnomAD v4.1.1, damaging REVEL score (PM2_Supporting, PP3) variant currently at VUS", "contributionDate": { "date": "2026/9/28", "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": "CA10575963/MONDO:0100084/147/ci/CA10575963/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/ei/1/1592", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2026/9/28", "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/009", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "009", "label": "PM4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10575963/MONDO:0100084/147/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10575963/MONDO:0100084/147/ci/CA10575963/MONDO:0100084/147.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "comments": "Missense variant, criteria not applicable", "contributionDate": { "date": "2026/9/28", "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": "CA10575963/MONDO:0100084/147/ci/CA10575963/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147/0/1591", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10575963/MONDO:0100084/147", "metadata": { "created": "2026-10-15T19:07:55.103Z", "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": "Thu, 15 Oct 2026 19:07:54 -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": "454fe219-c891-4f46-b624-4e5950727a16", "variant": { "@id": "https://reg.genome.network/allele/CA10575963", "id": "CAR:CA10575963", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001100.4:c.923A>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-27T03:04:21.532Z" } }, "status": { "code": 200, "name": "OK" } }