ClinVar Miner

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

dbSNP: 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 2019-05-10 criteria provided, single submitter clinical testing 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. This variant has been reported to have conflicting or insufficient data to determine the effect on GJB1 protein function (PMID: 9354338, 15006706, 12460545). This variant has been observed in individuals affected with CMTX (PMID: 21692908, 9361298, 9818870). This variant is not present in population databases (ExAC no frequency). 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.
Inherited Neuropathy Consortium RCV000789832 SCV000929216 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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