ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.103G>A (p.Val35Met) (rs1602348735)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069428 SCV001234592 uncertain significance Charcot-Marie-Tooth Neuropathy X 2019-05-11 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 35 of the GJB1 protein (p.Val35Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with CMTX (PMID: 21692908, 9361298, 9818870). This variant has been reported to have conflicting or insufficient data to determine the effect on GJB1 protein function (PMID: 9354338, 15006706, 12460545). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium RCV000789832 SCV000929216 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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