ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1043T>A (p.Phe348Tyr) (rs794728363)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181778 SCV000234081 uncertain significance not provided 2014-04-29 criteria provided, single submitter clinical testing p.Phe348Tyr (TTC>TAC): c.1043 T>A in exon 5 of the KCNH2 gene (NM_000238.2). A variant of unknown significance has been identified in the KCNH2 gene. The F348Y variant has not been published as a mutation or reported as a benign polymorphism to our knowledge. The F348Y 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 F348Y 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. However, in silico analysis predicts this variant likely does not alter the protein structure/function. Nevertheless, missense mutations in nearby residues (P347S, E365G) have been reported, supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in LQT panel(s).

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