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The c.235delC variant was identified in 7 affected families. Two families were homozygous, three families were compound het for Y136X, and two families were compound het for R143W.", "contributionDate": { "date": "2019/7/17", "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": "CA127025/MONDO:0019497/005/ci/EV000000101", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/10633133", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA127025/MONDO:0019497/005/ci/EV000000102", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "147 Korean patients with NSHL were screened for variants in GJB2. The c.235delC variant was identifed in 5 homozygous individuals and 5 compound hets. Because the het individuals did not have a second variant listed, I would only count the homozygous individuals here.", "contributionDate": { "date": "2019/7/17", "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": "CA127025/MONDO:0019497/005/ci/EV000000102", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/10983956", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/0/1669/1671", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/1/1670", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/0/1669", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA127025/MONDO:0019497/005/el/0/1825", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA127025/MONDO:0019497/005/ei/1/1826", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "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/CA127025/MONDO:0019497/005/el/0/1825/1827", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA127025/MONDO:0019497/005/ci/EV000000103", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "HeLa cells were transfected with WT, mock transfected cells, or c.235delC constructs. Lucifer yellow was incubated with the cells for the dye transfer assay. Cells with the WT GJB2 demonstrated dye transfer, the negative control and the c.235delC cells had no dye transfer.", "contributionDate": { "date": "2019/7/17", "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": "CA127025/MONDO:0019497/005/ci/EV000000103", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12352684", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/0/1825/1827", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/1/1826", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/0/1825", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA127025/MONDO:0019497/005/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA127025/MONDO:0019497/005/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "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/CA127025/MONDO:0019497/005/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA127025/MONDO:0019497/005/ci/CA127025/MONDO:0019497/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Although the MAF (using the ExAC FAF) is .38% in East Asians, BS1 is not contributing to the overall pathogenicity because this variant is on the HL ClinGen CDWG exclusion list.", "contributionDate": { "date": "2019/7/17", "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": "CA127025/MONDO:0019497/005/ci/CA127025/MONDO:0019497/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005/0/1777", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA127025/MONDO:0019497/005", "metadata": { "created": "2024-09-27T19:40:46.325Z", "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 19:40:46 -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": "eda5030c-9ccf-4b14-bada-077b25b2562c", "variant": { "@id": "https://reg.genome.network/allele/CA127025", "id": "CAR:CA127025", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_004004.5:c.235del" } ], "preferred": true }, { "alleleName": [ { "name": "NM_004004.5:c.235delC" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-05T04:24:10.368Z" } }, "status": { "code": 200, "name": "OK" } }