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The difference in frequencies for EVA vs non-EVA populations was insignificant for this variant.", "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": "CA253312/MONDO:0010134/005/ci/EV000000464", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/26683941", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000463", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study found the p.V138F variant in 17% of their Pendred/DFNB4 cohort but did not report this as statistically higher than controls.", "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": "CA253312/MONDO:0010134/005/ci/EV000000463", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23336812", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000105", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This meta analysis shows that the origin of the p.V138F variant is likely from Western Europe and that it is a founder mutation in Caucasians. 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"label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0040", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "0040", "label": "PP1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1630/1632", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000465", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Total: 2 affected segs and 0 unaffected segs from parents with the p.V138F Variant. 2 comp het probands with Path variants in trans and 2 homzygous probands. 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Family D (German nonconsanguineous): Pendred syndrome in homozygous p.V138F German boy who had heterozygous mother, aunt and uncle.", "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": "CA253312/MONDO:0010134/005/ci/EV000000465", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12788906", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1630/1632", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1631", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1630", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1696", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1697", "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/0045", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0045", "label": "PS3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1696/1698", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000423", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This paper showed that the V138F variant, among other SLC26A4 variants was not able to reach the cell membrane and appeared to localize to distinct areas of the cytoplasm. They hypothesized that the mutants caused aberrant protein processing in either the ER or the Golgi. This study only shows mislocalization and the variant did not have an effect on iodide efflux. 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"id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1838", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1837", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1748", "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/0062", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0062", "label": "PP3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "REVEL reports a score of 0.898. Our cutoff for PP3 is > 0.7.", "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": "CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1633", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1634", "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/0063", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0063", "label": "PP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1633/1635", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000465", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "ID'd families with Pendred syndrome", "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": "CA253312/MONDO:0010134/005/ci/EV000000465", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12788906", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000462", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "ID'd an affected patient with EVA and HL", "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": "CA253312/MONDO:0010134/005/ci/EV000000462", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23273637", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1633", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1702", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1703", "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/0069", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0069", "label": "BS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "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" } ], "id": "CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1702", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1637", "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/0030", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0030", "label": "PM2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "38/126540 European (non-finnish) 0.03%", "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": "CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1669", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1670", "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/0038", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000220", "id": "SEPIO:0000220", "label": "Pathogenic Very Strong" }, "id": "0038", "label": "PM3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1669/1671", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000465", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Total: 2 comp het probands with Path variants in trans and 2 homzygous probands. This paper identified 4 families who had the p.Val138Phe identified with disease. The variant was present in a homozygous individual with Pendred syndrome in family A and segregated from two unaffected nonconsanguineous Turkish parents who were het carriers. Family B (German nonconsanguineous): Father had the p.Y530H (Path in GI) variant, mother had the p.V138F variant, 2 affected compound het children. Family C (German nonconsanguineous), Father and sister were affected by Pendred syndrome and had the p.V138F and E384G variants, but his p.E384G (Path in GI) heterozygous son was unaffected. Family D (German nonconsanguineous): Pendred syndrome in homozygous p.V138F German boy who had heterozygous mother, aunt and uncle.", "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": "CA253312/MONDO:0010134/005/ci/EV000000465", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12788906", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000466", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "4 Patients with Pendred syndrome sequenced for SLC26A4 variants as well as FOXI1 and KCNJ10. They found 3 p.Val138Phe homozygotes and 1 compound heterozygote (p.Leu597Ser). Leu597Ser is actually classified as a Benign/LB variant in ClinVar by 4 labs.", "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": "CA253312/MONDO:0010134/005/ci/EV000000466", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23965030", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000462", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This paper identified the V138F variant in a Brazilian patient with NSHL and EVA. THe patient had a compound heterozygous genotype with the variant in trans with a p.Q413R variant which has been classified as LP by counsyl in 2016.", "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": "CA253312/MONDO:0010134/005/ci/EV000000462", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23273637", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000467", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified 6 patients with the p.V138F varaint who had PS-EVA, and they found that 4 of them had a second mutation identified however they don't describe what the other mutations were.", "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": "CA253312/MONDO:0010134/005/ci/EV000000467", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/17503324", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000461", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study found 2 probands. One was heterozygous for the V138F variant who had LE Cophosis RE normal hearing. And the other patient and sibling had the V138F variant in trans with the p.Q514 variant.", "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": "CA253312/MONDO:0010134/005/ci/EV000000461", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/18285825", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000460", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified the p.Val138Phe variant in 6 patients with EVA and hearing loss. However, there were only 2 patietns with biallelic pathogenic SLC26A4 mutations. One patient had a c.1001+1G>A varaint and the other had the Leu445Trp variant. Of note, there were 4 affected heterozygotes.", "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": "CA253312/MONDO:0010134/005/ci/EV000000460", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/20597900", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000456", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Total: 2 compound het with path variant. Identified two brothers who have Pendred syndrome. Both were positive for the p.Val138Phe and p.Leu445Trp (Path in ClinVar by 4 labs including LMM & GeneDx). Also identified a female patient with Pendred who had the variant in trans with p.Glu384Gly variant (Path/LP in ClinVar by LMM, GeneDx, Counsyl)", "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": "CA253312/MONDO:0010134/005/ci/EV000000456", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24224479", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000458", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified a 46 year old Caucasian female who was diagnosed with Pendred syndrome. \"This case illustrates that, although pendrin is not usually required to maintain acid–base\nhomeostasis under ambient condition, loss of renal bicarbonate excretion by pendrin during a\nmetabolic alkalotic challenge may contribute to life-threatening acid–base disturbances in patients\nwith Pendred syndrome\". This patient was homzoygous for the variant. Sequencing of the SLC26A4 gene revealed the genoytype. Consanguinity was not discussed.", "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": "CA253312/MONDO:0010134/005/ci/EV000000458", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/21551164", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000459", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified 2 patients with Pendred syndrome adn one patient with an indeterminate EVA phenotype. The patient with indeterminate phenotype had a c.1343_1344insAGTC variant in trans with the p.V138F variant. One Pendred patient was homozygous for the p.V138F variant and another patient was compound het with a p.E384G variant (P/LP).", "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": "CA253312/MONDO:0010134/005/ci/EV000000459", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/15689455", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000422", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified a French patient with EVA and Mondini malformation with a homozygous p.V138F genotype.", "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": "CA253312/MONDO:0010134/005/ci/EV000000422", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/16570074", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1669/1671", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1670", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1669", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1685", "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/0080", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0080", "label": "BP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "REVEL reports a score of 0.898. Our cutoff for PP3 is > 0.7.", "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": "CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1789", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1790", "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/0081", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0081", "label": "BP3", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1789/1791", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "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" } ], "id": "CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1789/1791", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1790", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1789", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1726", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1727", "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/0082", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0082", "label": "BP1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1726/1728", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "We do not utilize either of these codes in the HL group", "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": "CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1726/1728", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1727", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1726", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1597", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/ei/1/1598", "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/0084", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0084", "label": "BP2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1597/1599", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000465", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Total: 2 comp het probands with Path variants in trans and 2 homzygous probands. This paper identified 4 families who had the p.Val138Phe identified with disease. The variant was present in a homozygous individual with Pendred syndrome in family A and segregated from two unaffected nonconsanguineous Turkish parents who were het carriers. Family B (German nonconsanguineous): Father had the p.Y530H (Path in GI) variant, mother had the p.V138F variant, 2 affected compound het children. Family C (German nonconsanguineous), Father and sister were affected by Pendred syndrome and had the p.V138F and E384G variants, but his p.E384G (Path in GI) heterozygous son was unaffected. Family D (German nonconsanguineous): Pendred syndrome in homozygous p.V138F German boy who had heterozygous mother, aunt and uncle.", "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": "CA253312/MONDO:0010134/005/ci/EV000000465", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12788906", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000466", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "4 Patients with Pendred syndrome sequenced for SLC26A4 variants as well as FOXI1 and KCNJ10. They found 3 p.Val138Phe homozygotes and 1 compound heterozygote (p.Leu597Ser). Leu597Ser is actually classified as a Benign/LB variant in ClinVar by 4 labs.", "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": "CA253312/MONDO:0010134/005/ci/EV000000466", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23965030", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000462", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This paper identified the V138F variant in a Brazilian patient with NSHL and EVA. THe patient had a compound heterozygous genotype with the variant in trans with a p.Q413R variant which has been classified as LP by counsyl in 2016.", "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": "CA253312/MONDO:0010134/005/ci/EV000000462", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23273637", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000467", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified 6 patients with the p.V138F varaint who had PS-EVA, and they found that 4 of them had a second mutation identified however they don't describe what the other mutations were.", "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": "CA253312/MONDO:0010134/005/ci/EV000000467", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/17503324", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000461", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study found 2 probands. One was heterozygous for the V138F variant who had LE Cophosis RE normal hearing. And the other patient and sibling had the V138F variant in trans with the p.Q514 variant.", "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": "CA253312/MONDO:0010134/005/ci/EV000000461", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/18285825", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000460", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified the p.Val138Phe variant in 6 patients with EVA and hearing loss. However, there were only 2 patietns with biallelic pathogenic SLC26A4 mutations. One patient had a c.1001+1G>A varaint and the other had the Leu445Trp variant. Of note, there were 4 affected heterozygotes.", "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": "CA253312/MONDO:0010134/005/ci/EV000000460", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/20597900", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000456", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Total: 2 compound het with path variant. Identified two brothers who have Pendred syndrome. Both were positive for the p.Val138Phe and p.Leu445Trp (Path in ClinVar by 4 labs including LMM & GeneDx). Also identified a female patient with Pendred who had the variant in trans with p.Glu384Gly variant (Path/LP in ClinVar by LMM, GeneDx, Counsyl)", "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": "CA253312/MONDO:0010134/005/ci/EV000000456", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24224479", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000458", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified a 46 year old Caucasian female who was diagnosed with Pendred syndrome. \"This case illustrates that, although pendrin is not usually required to maintain acid–base\nhomeostasis under ambient condition, loss of renal bicarbonate excretion by pendrin during a\nmetabolic alkalotic challenge may contribute to life-threatening acid–base disturbances in patients\nwith Pendred syndrome\". This patient was homzoygous for the variant. Sequencing of the SLC26A4 gene revealed the genoytype. Consanguinity was not discussed.", "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": "CA253312/MONDO:0010134/005/ci/EV000000458", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/21551164", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000459", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified 2 patients with Pendred syndrome adn one patient with an indeterminate EVA phenotype. The patient with indeterminate phenotype had a c.1343_1344insAGTC variant in trans with the p.V138F variant. One Pendred patient was homozygous for the p.V138F variant and another patient was compound het with a p.E384G variant (P/LP).", "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": "CA253312/MONDO:0010134/005/ci/EV000000459", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/15689455", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/EV000000422", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "This study identified a French patient with EVA and Mondini malformation with a homozygous p.V138F genotype.", "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": "CA253312/MONDO:0010134/005/ci/EV000000422", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/16570074", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1597/1599", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1598", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1597", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA253312/MONDO:0010134/005/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/CA253312/MONDO:0010134/005/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "38/126540 European (non-finnish) 0.03%", "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": "CA253312/MONDO:0010134/005/ci/CA253312/MONDO:0010134/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005/0/1777", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA253312/MONDO:0010134/005", "metadata": { "created": "2024-09-27T19:42:54.171Z", "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 19:42:53 -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": "c400a0f9-d38a-4d2e-9b96-5829547c6b19", "variant": { "@id": "https://reg.genome.network/allele/CA253312", "id": "CAR:CA253312", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000441.1:c.412G>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000441.1(SLC26A4):c.412G>T (p.Val138Phe)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-01T03:02:41.801Z" } }, "status": { "code": 200, "name": "OK" } }