ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.812G>A (p.Arg271His) (rs794728361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181768 SCV000234071 uncertain significance not provided 2014-07-07 criteria provided, single submitter clinical testing p.Arg271His (CGC>CAC): c.812 G>A in exon 4 of the KCNH2 gene (NM_000238.2). A variant of unknown significance has been identified in the KCNH2 gene. The R271H variant has not been published as a mutation or as a benign polymorphism to our knowledge. The R271H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. Nevertheless, this substitution occurs at a position that is completely conserved across species. Moreover, missense mutations in nearby residues (R269W, R273Q) have been reported in association with LQTS and SIDS, 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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