ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.119C>T (p.Ala40Val) (rs1602348786)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040086 SCV001203641 pathogenic Charcot-Marie-Tooth Neuropathy X 2019-03-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 40 of the GJB1 protein (p.Ala40Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Charcot-Marie-Tooth disease (PMID: 8800924, 28768847). This variant has been reported to affect GJB1 protein function (PMID: 12460545). This variant disrupts the p.Ala40 amino acid residue in GJB1. Other variant(s) that disrupt this residue have been observed in individuals with GJB1-related conditions (PMID: 12536289, 28768847), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789265 SCV000928618 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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