ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1562C>G (p.Ala521Gly) (rs1057518505)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413455 SCV000492222 uncertain significance not specified 2016-12-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNQ3 gene. The A521G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A521G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the A521G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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