ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1664G>A (p.Cys555Tyr) (rs1057517866)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412811 SCV000490916 likely pathogenic not provided 2016-05-18 criteria provided, single submitter clinical testing The C555Y variant has not been publishedas a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The C555Yvariant was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. The C555Y variant is a non-conservative amino acid substitution, which is likely toimpact secondary protein structure as these residues differ in polarity, charge, size and/or otherproperties. This substitution occurs at a position that is conserved across species. In silico analysispredicts this variant is probably damaging to the protein structure/function. Finally, the C555Y variantis located in the S5 helical transmembrane domain. Therefore, this variant is likely pathogenic.

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