ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.146C>T (p.Ala49Val) (rs1057517976)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412967 SCV000491248 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing The A49V variant in the GJB2 gene has been reported previously in the heterozygous state and also in the presence of another GJB2 variant in Japanese individuals with hearing loss (Ohtsuka et al., 2003; Tsukada et al., 2010), although no family history or other clinical information was reported. The A49V variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A49V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret A49V as a variant of uncertain significance.
Counsyl RCV000666314 SCV000790586 uncertain significance Deafness, autosomal recessive 1A 2017-03-29 criteria provided, single submitter clinical testing

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