{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/e8dcc3d8-e1f4-4926-9e27-80bebb190bd5/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 2.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.0.0" }, "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/CA246018/MONDO:0100084/147/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA246018/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": "2026/6/23", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA246018/MONDO:0100084/147/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA246018/MONDO:0100084/147/ci/CA246018/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": "Six different missense variants, [c.685A>T (p.Met229Leu), c.686T>G (p.Met229Arg), c.686T>C (p.Met229Thr), c.687G>A (p.Met229Ile), c.687G>C (p.Met229Ile), c.687G>T (p.Met229Ile)], in the same codon have been reported in patients with congenital myopathies (PMIDs: 12921789, 19562689, VCEP internal contributor], of which at least one has met the criteria to be classified as pathogenic by the ClinGen Congenital Myopathies VCEP.", "contributionDate": { "date": "2026/6/23", "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": "CA246018/MONDO:0100084/147/ci/CA246018/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA246018/MONDO:0100084/147/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA246018/MONDO:0100084/147/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA246018/MONDO:0100084/147/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA246018/MONDO:0100084/147/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA246018/MONDO:0100084/147/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2026/6/23", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA246018/MONDO:0100084/147/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA246018/MONDO:0100084/147/ci/CA246018/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": "This variant has been reported as de novo occurrence in at least one individual (PMIDs: 19562689, 15236405, 12921789). 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"https://erepo.genome.network/evrepo/api/interpretation/CA246018/MONDO:0100084/147/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA246018/MONDO:0100084/147/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2026/6/23", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA246018/MONDO:0100084/147/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA246018/MONDO:0100084/147/ci/CA246018/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": "This variant is absent on gnomAD v4.1, meeting PM2_Supporting. \n", "contributionDate": { "date": "2026/6/23", "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": "CA246018/MONDO:0100084/147/ci/CA246018/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA246018/MONDO:0100084/147/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA246018/MONDO:0100084/147/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA246018/MONDO:0100084/147/0/1636", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA246018/MONDO:0100084/147", "metadata": { "created": "2026-06-23T15:07:36.329Z", "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": "Tue, 23 Jun 2026 15:07:36 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "e8dcc3d8-e1f4-4926-9e27-80bebb190bd5", "variant": { "@id": "https://reg.genome.network/allele/CA246018", "id": "CAR:CA246018", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001100.4:c.685A>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001100.4(ACTA1):c.685A>G (p.Met229Val)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-30T09:50:00.860Z" } }, "status": { "code": 200, "name": "OK" } }