ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)

dbSNP: rs1602349017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003437427 SCV004165369 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing GJB1: PM2, PM5, PS4:Supporting
GeneDx RCV003437427 SCV005376586 pathogenic not provided 2024-04-12 criteria provided, single submitter clinical testing Reported in the published literature in association with X-linked Charcot-Marie-Tooth disease (PMID: 9361298); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; Published functional studies demonstrate a damaging effect on protein function (PMID: 10354417); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 10354417, 9361298, 21291455)
Inherited Neuropathy Consortium RCV000789182 SCV000928534 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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