ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) (rs1602348907)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388385 SCV001589351 pathogenic Charcot-Marie-Tooth Neuropathy X 2015-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 65 (p.Tyr65*). It is expected to result in an absent or disrupted protein product. Truncating variants in GJB1 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with Charcot-Marie-Tooth Disease, type 1X (PMID: 22464564). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789801 SCV000929185 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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