ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.484del (p.Met162fs)

dbSNP: rs2147946319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906781 SCV002185994 pathogenic Charcot-Marie-Tooth Neuropathy X 2021-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met162Trpfs*34) in the GJB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 122 amino acid(s) of the GJB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GJB1-related conditions. This variant disrupts a region of the GJB1 protein in which other variant(s) (p.Arg220*) have been determined to be pathogenic (PMID: 7477983, 8162049, 9364054, 21291455). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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