ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1067C>T (p.Ala356Val)

dbSNP: rs1554627025
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498312 SCV000590503 likely pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing The A356V variant in the KCNQ3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A356V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A356V variant is a conservative amino acid substitution and occurs at a position that is conserved across species. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A356V as a likely pathogenic variant.

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