ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.343G>A (p.Val115Met) (rs150988911)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226122 SCV000283985 uncertain significance Long QT syndrome 2018-08-06 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 115 of the KCNH2 protein (p.Val115Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs150988911, ExAC 0.02%). This variant has been reported in an individual affected with long QT syndrome (LQTS) (PMID: 18441445). ClinVar contains an entry for this variant (Variation ID: 67496). Experimental studies performed in mammalian cells in culture have shown that this missense change does not have an impact on protein trafficking or channel gating (PMID: 25417810). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058225 SCV000089745 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:18441445). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
CSER _CC_NCGL, University of Washington RCV000148529 SCV000190241 uncertain significance Long QT syndrome 2 2014-06-01 no assertion criteria provided research

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