ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1634G>A (p.Arg545His) (rs202194495)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454411 SCV000539438 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: Identified by GeneDx in 1 proband; ExAC: 4/65750 European
Invitae RCV000691808 SCV000819600 uncertain significance Long QT syndrome 2018-03-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 885 of the KCNH2 protein (p.Arg885His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs202194495, ExAC 0.006%). This variant has been reported in an individual affected with Long QT Syndrome (PMID: 23631430). ClinVar contains an entry for this variant (Variation ID: 402995). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Mendelics RCV000988002 SCV001137546 uncertain significance Long QT syndrome 2 2019-05-28 criteria provided, single submitter clinical testing

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