ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1783T>C (p.Ser595Pro) (rs1064796743)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478698 SCV000573782 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing The S595P variant in the KCNQ3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S595P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S595P variant is a non-conservative amino acid substitution, which occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S595P as a variant of uncertain significance

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