ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.652A>G (p.Met218Val) (rs199472869)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690929 SCV000818660 uncertain significance Long QT syndrome 2018-04-13 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 218 of the KCNH2 protein (p.Met218Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant was reported in an individual referred for long QT testing (PMID: 19716085). ClinVar contains an entry for this variant (Variation ID: 67516). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000058245 SCV000089765 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). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786144 SCV000924815 uncertain significance not provided 2016-06-16 no assertion criteria provided provider interpretation

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