ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2362G>A (p.Glu788Lys) (rs199472997)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230704 SCV000283972 likely pathogenic Long QT syndrome 2016-02-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 788 of the KCNH2 protein (p.Glu788Lys). The glutamic acid residue is highly 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 two individuals affected with long QT syndrome (LQTS), one of them also suffering from episodes of severe convulsion and seizures (PMID: 19184172, 19716085). ClinVar contains an entry for this variant (Variation ID: 67389). Experimental studies have shown that this missense change affects protein trafficking, which is the mechanism associated with type 2 long QT syndrome (PMID: 25417810). In summary, this is a rare missense change that is absent from population databases, has been reported in two LQTS patients, and has an impact on protein function. In the absence of confirmed segregation data on this variant, it has been classified as Likely Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058111 SCV000089631 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:19184172;PMID:19716085). 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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