ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1715G>T (p.Gly572Val) (rs199473423)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181812 SCV000234115 pathogenic not provided 2016-05-04 criteria provided, single submitter clinical testing The Gly572Val variant in the KCNH2 gene has been reported previously in one individual with LQTS and it was absent from more than 2,600 reference alleles. Also, the NHLBI ESP Exome Variant Server reports Gly572Val 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. Variants in this codon (Gly572Arg, Gly572Asp, Gly572Cys, Gly572Ser) and in nearby codons (Ile571Leu, Ile571Val, Met574Val) have been reported in association with LQTS, further supporting the functional importance of this region of the protein.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057963 SCV000089483 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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