ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.494T>G (p.Val165Gly)

dbSNP: rs1586485438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780790 SCV002023244 likely pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801048 SCV005422090 uncertain significance not specified 2024-10-25 criteria provided, single submitter clinical testing Variant summary: CLCN1 c.494T>G (p.Val165Gly) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251474 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.494T>G has been reported in the literature in individuals affected with Myotonia congenita (Meyer-Kleine_1995). These data do not allow any conclusion about variant significance. At least one publication reports experimental evidence evaluating an impact on protein function (Zhang_2000), however, it does not allow convincing conclusions about the variant effect. The following publications have been ascertained in the context of this evaluation (PMID: 8533761, 10690989). ClinVar contains an entry for this variant (Variation ID: 1324085). Based on the evidence outlined above, the variant was classified as uncertain significance.

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