ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1652T>C (p.Phe551Ser) (rs1057524535)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423709 SCV000535828 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNH2 gene. The F551S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The F551S 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. This substitution occurs at a position where only amino acids with similar properties to phenylalanine are tolerated across species. Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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