ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.487del (p.Leu163fs)

dbSNP: rs1566538321
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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 RCV001844222 SCV000807815 likely pathogenic Nonsyndromic Deafness 2018-03-10 criteria provided, single submitter clinical testing This variant deletes one nucleotide resulting in an amino acid alteration, replacing a leucine (L) with a cysteine (C) at codon 163 creating a premature stop signal in the new reading frame noted as p. L163Cfs*5. 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 Clinical Variant Database (NCBI National Library of Medicine, NIH) or in population database such as ExAC or 1000 genomes. Based on these findings and the limited literature regarding this substitution we consider it as a likely pathogenic variant.

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