ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1067G>A (p.Arg356His) (rs730880118)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249792 SCV000318610 uncertain significance Cardiovascular phenotype 2013-04-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Invitae RCV000157263 SCV000543444 uncertain significance Long QT syndrome 2018-09-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 356 of the KCNH2 protein (p.Arg356His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs730880118, ExAC 0.02%). This variant has been reported in the literature in an individual affected with long QT syndrome (PMID: 24667783). ClinVar contains an entry for this variant (Variation ID: 180382). 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729426 SCV000857088 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157263 SCV000206993 uncertain significance Long QT syndrome 2014-05-28 no assertion criteria provided clinical testing

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