ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1639C>T (p.Arg547Cys) (rs140279503)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173989 SCV000225207 uncertain significance not provided 2015-06-05 criteria provided, single submitter clinical testing
Invitae RCV000230318 SCV000283975 uncertain significance Long QT syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 887 of the KCNH2 protein (p.Arg887Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs140279503, ExAC 0.03%) but has not been reported in the literature in individuals with a KCNH2-related disease. ClinVar contains an entry for this variant (Variation ID: 193802). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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