ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.124_125del (p.Ser42fs) (rs1602348794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799767 SCV000939445 pathogenic Charcot-Marie-Tooth Neuropathy X 2020-03-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GJB1 gene (p.Ser42Cysfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 242 amino acids of the GJB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with X-linked Charcot-Marie-Tooth disease type 1X (PMID: 22464564). This variant is also known as p.Ser42CysfsX45 in the literature. A different truncation downstream of this variant (p.Tyr65*) has been determined to be pathogenic (PMID: 22464564). This suggests that variants that disrupt this region of the GJB1 protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789808 SCV000929192 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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