ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1397G>A (p.Gly466Glu) (rs199473000)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181863 SCV000234166 pathogenic not provided 2014-05-10 criteria provided, single submitter clinical testing p.Gly806Glu (GGG>GAG): c.2417 G>A in exon 10 of the KCNH2 gene (NM_000238.2)The G806E mutation in the KCNH2 gene has been reported in a single patient with LQTS (Kapplinger J et al., 2009). G806E results in a non-conservative amino acid substitution at a position that is conserved across species. Mutations in nearby residues (G800E, F805C, F805S, P815L) have also been reported in association with LQTS, further supporting the functional importance of this region of the protein. Furthermore, the G806E 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, G806E 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 RCV000058120 SCV000089640 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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