ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2386G>T (p.Val796Leu)

dbSNP: rs143335921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209572 SCV001381013 uncertain significance Long QT syndrome 2023-08-03 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 940061). This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. This variant is present in population databases (rs143335921, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 796 of the KCNH2 protein (p.Val796Leu).
Fulgent Genetics, Fulgent Genetics RCV002497719 SCV002812179 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2021-07-22 criteria provided, single submitter clinical testing

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