ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneID Lab - Advanced Molecular Diagnostics RCV000680447 SCV000807820 likely pathogenic Nonsyndromic hearing loss 2018-03-10 criteria provided, single submitter clinical testing This variant creates a premature stop signal at position 163 of the GJB6 protein, written as p.Arg163Ter or p.R108*. The substitution is predicted to result in a non-functional GJB6 protein, either through protein truncation or nonsense-mediated mRNA decay. This mutation is considered a non-tolerated amino acid change based on in silico prediction algorithms (disease causing), and it has not been reported in the ClinVar Database (NCBI National Library of Medicine, NIH), but it has been described in 2 alleles out of 121114, in the ExAC database, all of them belonging to heterozygous carries of European origin. Based on these findings and the limited literature regarding this substitution we consider it as a likely pathogenic variant.

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