ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) (rs1555936989)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654851 SCV000776753 pathogenic Charcot-Marie-Tooth Neuropathy X 2017-09-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GJB1 gene (p.Trp3*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 281 amino acids (99%) of the GJB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with Charcot-Marie-Tooth disease, type X1 (PMID: 22464564, 27088055, 27804109). Several truncations downstream of this variant (p.Tyr65* and p.Arg220*) have been determined to be pathogenic (PMID: 224645664, 7477983, 9364054). This suggests that deletion of this region of the GJB1 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789800 SCV000929184 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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