ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.275G>T (p.Arg92Leu) (rs794728413)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181943 SCV000234246 likely pathogenic not provided 2012-07-18 criteria provided, single submitter clinical testing p.Arg92Leu (CGC>CTC): c.275 G>T in exon 2 of the KCNH2 gene (NM_000238.2)The Arg92Leu variant in the KCNH2 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Arg92Leu is a non-conservative amino acid substitution of positively charged Arginine with a non-polar Leucine at a position that is conserved across species. Mutations in nearby codons (Leu87Pro, Val94Gly, Ile96Thr, Ile96Val) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. The NHLBI ESP Exome Variant Server reports Arg92Leu was not observed in over 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common variant in these populations.In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine the clinical significance of the Arg92Leu variant in the KCNH2 gene, although evidence suggests it is likely disease-causing. The variant is found in LQT panel(s).

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