ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1954_1956delinsCAC (p.Tyr652His) (rs794728490)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598744 SCV000710047 uncertain significance not specified 2018-01-17 criteria provided, single submitter clinical testing The c.1954_1956delTATinsCAC (p.Y652H) variant of uncertain significance in the KCNH2 gene has not been published as pathogenic or benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant results in an in-frame deletion of one amino acid, tyrosine 652, and insertion of a histidine residue, denoted p.Y652H. The c.1954_1956delTATinsCAC (p.Y652H) variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, 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. In addition, functional studies indicate that substitutions at the Tyr652 residue may affect the expression of additional KCNH2 variants (Chen et al., 2002; Delisle et al., 2005).

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