ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1885A>G (p.Asn629Asp) (rs199472956)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181822 SCV000234125 pathogenic not provided 2015-04-09 criteria provided, single submitter clinical testing The Asn629Asp mutation in the KCNH2 gene has been reported multiple times in association with LQTS (Satler C et al., 1998; Lees-Miller J et al., 2000; Anderson C et al., 2006; Teng G et al., 2008). Mutations affecting this same residue, (Asn629Ser, Asn629Ile, Asn629Lys, Asn629Thr) and nearby residues (Gly628Ala, Gly628Ser, Gly628Val, Val630Ala, Val630Leu) in the highly conserved pore region have been reported in association with LQTS, further supporting the functional importance of this residue and this region of the protein. Furthermore, Asn629Asp was not observed in approximately 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. The variant is found in LQT panel(s).
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058032 SCV000089552 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:9544837;PMID:10517660;PMID:10720411;PMID:16432067). 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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