ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.275G>C (p.Arg92Pro)

dbSNP: rs794728413
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218783 SCV001390686 uncertain significance Long QT syndrome 2019-06-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 92 of the KCNH2 protein (p.Arg92Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNH2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.

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