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VLCFA beta-oxidation assays in affected hemizygote fibroblasts showed that VLCFA beta-oxidation is reduced to 20% of normal, indicating that this variant impacts protein function (PMID: 11739809)\n", "contributionDate": { "date": "2026/4/15", "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": "CA278121/MONDO:0018544/105/ci/CA278121/MONDO:0018544/105.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/0/1828", "type": "EvidenceLine" }, { "@id": 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There are 7 affected segregations (including the proband); PMID:11739809\n", "contributionDate": { "date": "2026/4/15", "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": "CA278121/MONDO:0018544/105/ci/CA278121/MONDO:0018544/105.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/0/1648/1650", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/1/1649", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/0/1648", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA278121/MONDO:0018544/105/el/0/1612", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA278121/MONDO:0018544/105/ei/1/1613", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822", "id": "CG-PCER-AGENT:CG_50049_EP177618055787822", "type": "Agent" }, "contributionDate": { "date": "2026/4/15", "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/CA278121/MONDO:0018544/105/el/0/1612/1614", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA278121/MONDO:0018544/105/ci/CA278121/MONDO:0018544/105.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822", "id": "CG-PCER-AGENT:CG_50049_EP177618055787822", "type": "Agent" }, "comments": "The c.-16_10del (p. Met1fs) variant in ABCD1 may cause a truncated or absent protein by altering the start codon of the coding sequence and is predicted to lead to the omission of a critical region of the protein. This sequence change affects the initiator methionine of the ABCD1 mRNA. The next in-frame methionine is located at codon 67. Disruption of the initiator codon has been observed in individual(s) with adrenomyeloneuropathy (PVS1_Moderate; PMID: 11739809, 18306728).\n", "contributionDate": { "date": "2026/4/15", "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": "CA278121/MONDO:0018544/105/ci/CA278121/MONDO:0018544/105.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/0/1612/1614", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/1/1613", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105/0/1612", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA278121/MONDO:0018544/105", "metadata": { "created": "2026-04-15T15:22:48.541Z", "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": "Wed, 15 Apr 2026 15:22:48 -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": "bdb7d73c-de9f-48d0-8d4c-42d9dc330c14", "variant": { "@id": "https://reg.genome.network/allele/CA278121", "id": "CAR:CA278121", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000033.4:c.-16_10del" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-03T01:01:22.615Z" } }, "status": { "code": 200, "name": "OK" } }