{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/9018a567-e5e9-47ce-aa35-592590b6e29d/doc/sepio/version/1.1.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1622722963", "label": "ClinGen Urea Cycle Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTC Version 1.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010703", "id": "MONDO:0010703", "label": "ornithine carbamoyltransferase deficiency", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1753", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1754", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0019", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0019", "label": "PP3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1753/1755", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "comments": "The REVEL computational prediction analysis tool produced a score of 0.958, which is\nabove the threshold necessary to apply PP3_Strong (≥ 0.932).", "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1753/1755", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1754", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1753", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0080", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0080", "label": "BP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1726", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1727", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0082", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0082", "label": "BP1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1726/1728", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1726/1728", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1727", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1726", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0087", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000325", "id": "SEPIO:0000325", "label": "Benign Stand Alone" }, "id": "0087", "label": "BA1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1766", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0050", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0050", "label": "PS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "comments": "No same AA change found", "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0030", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0030", "label": "PM2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting)", "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1825", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1826", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0039", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "0039", "label": "PS3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1825/1827", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/EV000001981", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "comments": "PMID: 37146589: shown to result in <5% wild-type OTC growth activity in yeast assay, consistent with impairing protein function", "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/EV000001981", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/37146589", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1825/1827", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1826", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1825", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/006", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "006", "label": "PM1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "comments": "This variant does not reside within a region of OTC that is defined as a\nmutational hotspot or critical functional domain by the ClinGen Urea Cycle Disorders VCEP.", "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1615", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/CA412728043/MONDO:0010703/156/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "comments": "No other MS vrts were found", "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0070", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0070", "label": "BS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1837", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1838", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0061", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0061", "label": "PP2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1837/1839", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1837/1839", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1838", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1837", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1633", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/ei/1/1634", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "contributionDate": { "date": "2026/9/11", "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/0063", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0063", "label": "PP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412728043/MONDO:0010703/156/el/0/1633/1635", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257", "id": "CG-PCER-AGENT:CG_50100_EP177998198620257", "type": "Agent" }, "comments": "Patient described by Bernal et al. could possibly have this variant, but there are typos in the article. The variant is named as c.1025T>G (p.Leu342Pro) in Table 2, but c.1025T>G (p.Lys342Pro) in Supplementary Material. It is rather unclear if this is the same variant that is being curated. Maybe contact paper's authors?", "contributionDate": { "date": "2026/9/11", "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": "CA412728043/MONDO:0010703/156/ci/CA412728043/MONDO:0010703/156.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156/0/1633", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA412728043/MONDO:0010703/156", "metadata": { "created": "2026-09-11T15:37:50.728Z", "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, 11 Sep 2026 15:37:50 -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": "9018a567-e5e9-47ce-aa35-592590b6e29d", "variant": { "@id": "https://reg.genome.network/allele/CA412728043", "id": "CAR:CA412728043", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000531.6:c.1025T>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000531.6(OTC):c.1025T>C (p.Leu342Pro)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T23:32:38.434Z" } }, "status": { "code": 200, "name": "OK" } }