ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.388G>A (p.Glu130Lys) (rs199472863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688920 SCV000816550 uncertain significance Long QT syndrome 2018-03-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 130 of the KCNH2 protein (p.Glu130Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with long QT syndrome (LQTS), and in an individual referred for LQTS testing (PMID: 15090700, 24363352). ClinVar contains an entry for this variant (Variation ID: 67503). 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"). Experimental studies have indicated that this missense change does not exhibit abnormal protein trafficking or a loss-of-function effect (PMID: 25417810). 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.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058232 SCV000089752 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:15090700). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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