ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg)

gnomAD frequency: 0.00001  dbSNP: rs752343828
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001991981 SCV002285137 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome 2022-11-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1496632). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 251 of the GJB6 protein (p.Ser251Arg). This variant is present in population databases (rs752343828, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GJB6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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