ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1811G>T (p.Gly604Val) (rs199472937)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182030 SCV000234333 likely pathogenic not provided 2018-01-03 criteria provided, single submitter clinical testing The G604V likely pathogenic variant in the KCNH2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). Although the G604V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Furthermore, missense variants in the same residue (G604D, G604S) and in nearby residues (S599R, G601S, G601C, P605S, P605L, S606P, S606F) have been reported in the Human Gene Mutation Database in association with LQTS (Stenson et al., 2014), supporting the functional importance of this residue and region of the protein.

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