ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) (rs1602348981)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819010 SCV000959649 pathogenic Charcot-Marie-Tooth Neuropathy X 2018-11-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GJB1 gene (p.Gln80*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 204 amino acids 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 with GJB1-related disease. This variant disrupts the C-terminus of the GJB1 protein. Other variant(s) that disrupt this region (p.Leu115Profs*32, p.Asn175Lysfs*68, p.Arg220*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789180 SCV000928532 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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