ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.458T>G (p.Val153Gly)

gnomAD frequency: 0.00001  dbSNP: rs779119807
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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 RCV001995911 SCV002272900 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome 2021-02-22 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GJB6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 153 of the GJB6 protein (p.Val153Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine.

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