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Family testing was not performed for the remaining individuals.", "contributionDate": { "date": "2025/1/3", "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": "CA345150112/MONDO:0100084/147/ci/CA345150112/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA345150112/MONDO:0100084/147/0/1603/1605", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA345150112/MONDO:0100084/147/1/1604", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA345150112/MONDO:0100084/147/0/1603", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA345150112/MONDO:0100084/147/el/0/1738", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA345150112/MONDO:0100084/147/ei/1/1739", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2025/1/3", "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/CA345150112/MONDO:0100084/147/el/0/1738/1740", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA345150112/MONDO:0100084/147/ci/CA345150112/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": "At least one patient with this variant displayed intranuclear rods and type 1 muscle fiber predominance, which is highly specific for alpha-actinopathy and has had exome testing that is negative for all other causes of myopathy (PP4_Strong, PMID: 35810298).", "contributionDate": { "date": "2025/1/3", "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": "CA345150112/MONDO:0100084/147/ci/CA345150112/MONDO:0100084/147.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA345150112/MONDO:0100084/147/0/1738/1740", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA345150112/MONDO:0100084/147/1/1739", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA345150112/MONDO:0100084/147/0/1738", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA345150112/MONDO:0100084/147", "metadata": { "created": "2025-01-03T16:48:58.761Z", "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, 03 Jan 2025 16:48:58 -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": "813ff07f-556e-4768-9347-9b93e3c210dd", "variant": { "@id": "https://reg.genome.network/allele/CA345150112", "id": "CAR:CA345150112", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001100.4:c.283G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-13T22:20:02.401Z" } }, "status": { "code": 200, "name": "OK" } }