ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.507del (p.Asp169fs)

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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 RCV003581953 SCV004245013 pathogenic Charcot-Marie-Tooth Neuropathy X 2023-05-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has not been reported in the literature in individuals affected with GJB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp169Glufs*27) in the GJB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 115 amino acid(s) of the GJB1 protein.

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