ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln)

gnomAD frequency: 0.00004  dbSNP: rs771412904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774057 SCV001994544 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540333 SCV003455763 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome 2024-12-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 108 of the GJB6 protein (p.Arg108Gln). This variant is present in population databases (rs771412904, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GJB6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1308146). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GJB6 protein function with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV001774057 SCV003816814 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing

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