ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1787C>A (p.Pro596His) (rs199472933)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181819 SCV000234122 pathogenic not provided 2014-01-31 criteria provided, single submitter clinical testing p.Pro596His (CCC>CAC): c.1787 C>A in exon 7 of the KCNH2 gene (NM_000238.2)The P596H mutation in the KCNH2 gene has been reported in a single patient with LQTS, and was not observed in >2,600 reference alleles in the same study (Kapplinger J et al., 2009). Other mutations affecting the same residue ((P596R, P596L, P596T) as well as mutations in nearby residues (G594D, K595E, K595N, Y597C, S599R) have been reported in association with LQTS, further supporting the functional importance of this residue and this region of the protein. Furthermore, the P596H mutation was not observed inapproximately 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.In summary, P596H in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057990 SCV000089510 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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