ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.703C>T (p.Arg235Ter)

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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 RCV000680448 SCV000807821 likely pathogenic Nonsyndromic hearing loss 2018-03-10 criteria provided, single submitter clinical testing This variant creates a premature stop signal at position 235 of the GJB3 protein, written as p.Arg235Ter or p.R235*. The substitution is predicted to result in a non-functional GJB3 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 3 alleles out of 119888, 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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