ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.500T>C (p.Val167Ala)

gnomAD frequency: 0.00001  dbSNP: rs201983374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001824523 SCV002074079 likely pathogenic not provided 2024-03-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526867 SCV005039718 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing Variant summary: GJB2 c.500T>C (p.Val167Ala) results in a non-conservative amino acid change located in the Connexin, N-terminal (IPR0133092) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 243742 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.500T>C in individuals affected with Non-Syndromic Hearing Loss and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1339621). Based on the evidence outlined above, the variant was classified as uncertain significance.

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