ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.139G>T (p.Gly47Cys) (rs794728409)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181929 SCV000234232 pathogenic not provided 2012-08-12 criteria provided, single submitter clinical testing p.Gly47Cys (GGC>TGC):c.139 G>T in exon 2 of the KCNH2 gene (NM_000238.2). The Gly47Cys mutation in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. However, a mutation affecting this same codon, (Gly47Val), has been reported in association with LQTS (Splawski I et al., 2000; Moss A et al., 2002). Mutations in nearby residues (Asn45Tyr, Cys49Tyr) have also been reported in association with LQTS, further supporting the functional importance of this codon and this region of the protein. Gly47Cys results in a non-conservative amino acid substitution of non-polar, small Glycine with a neutral, polar Cysteine at a position that is conserved across species. Furthermore, the NHLBI ESP Exome Variant Server reports Gly47Cys was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations.In summary, Gly47Cys in the KCNH2 gene is interpreted as a likely disease-causing mutation. The variant is found in LQT panel(s).

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