ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2246G>T (p.Gly749Val) (rs199472989)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181844 SCV000234147 pathogenic not provided 2014-02-25 criteria provided, single submitter clinical testing p.Gly749Val (GGC>GTC): c.2246 G>T in exon 9 of the KCNH2 gene (NM_000238.2)The G749V mutation in the KCNH2 gene has been reported previously in association with LQTS. The G749V mutation was reported in one patient with LQTS, and was not detected in >2,600 reference alleles (Kapplinger et al., 2009). Other missense mutations affecting nearby residues (R744P, R752Q) have been reported in association with LQTS, supporting the functional importance of this region of the protein. Furthermore, the G749V mutation 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. In summary, G749V in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454509 SCV000539432 uncertain significance not specified 2016-03-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband; Absent from ExAC with good coverage; ClinVar: 1 pathogenic
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058098 SCV000089618 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;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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