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"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/CA400032726/MONDO:0010119/011/el/0/1825/1827", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA400032726/MONDO:0010119/011/ci/EV000001270", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "comments": "Chen et al,2001 performed transfection studies using CHO cells. Flowcytometry showed reduced (~10%) surface expression of β3Cys598Tyr (β3Cys624Tyr) when compared with wildtype αIIbβ3 expression. Immunochemical analysis of the mutated receptors by SDS-PAGE and Western blot revealed a lower than normal electrophoretic mobility of β3 under nonreducing conditions, while their mobility was identical to wild type β3 under reducing conditions. Interestingly, this variant is found to be partially activating, allowing the spontaneous binding of the activation-dependent monoclonal antibody PAC-1 to transfected CHO. PS3 is therefore applied at moderate strength.", "contributionDate": { "date": "2021/1/22", "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": "CA400032726/MONDO:0010119/011/ci/EV000001270", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/11507099", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA400032726/MONDO:0010119/011/0/1825/1827", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA400032726/MONDO:0010119/011/1/1826", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA400032726/MONDO:0010119/011/0/1825", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA400032726/MONDO:0010119/011", "metadata": { "created": "2024-09-27T21:27:37.378Z", "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, 27 Sep 2024 21:27:37 -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": "c881c2c9-1906-4660-83a4-6516d8673ba9", "variant": { "@id": "https://reg.genome.network/allele/CA400032726", "id": "CAR:CA400032726", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000212.3:c.1871G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000212.3:c.1871G>A" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-05T11:20:36.156Z" } }, "status": { "code": 200, "name": "OK" } }