ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.479G>C (p.Arg160Pro)

dbSNP: rs200055020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752728 SCV001997665 uncertain significance not provided 2024-12-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Located in the conserved second extracellular loop (E2) of connexin 31, which contributes to specificity of heterotypic interactions between hemichannels and proper cellular distribution of the protein (Mese et al. 2007); Has not been previously published as pathogenic or benign to our knowledge

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