ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1967A>T (p.Asn656Ile) (rs199473018)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181903 SCV000234206 pathogenic not provided 2012-04-27 criteria provided, single submitter clinical testing p.Asn996Ile (AAC>ATC): c.2987 A>T in exon 13 of the KCNH2 (aka HERG) gene (NM_000238.2). The Asn996Ile mutation in the KCNH2 gene has been reported in association with LQTS (Khositseth A et al., 2004; Tan H et al., 2006; Kapa S et al., 2009). Khositseth et al. identified Asn996Ile in an 8 week old newborn with an aborted cardiac arrest and in another family member. Additionally, Asn996Ile was reported in two probands with LQTS and it was not observed in more than 1,300 healthy control individuals (Tan H et al., 2006; Kapa S et al., 2009). The NHLBI ESP Exome Variant Server also reports Asn996Ile was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Mutations in nearby codons (Arg1005Gln, Arg1007His) have been reported in association with LQTS, further supporting the functional importance of this region of the protein.Therefore, Asn996Ile 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 RCV000058185 SCV000089705 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:15840476;PMID:15851119;PMID:19841300). 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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