ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1781G>A (p.Gly594Asp) (rs199472931)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205698 SCV001376967 likely pathogenic Long QT syndrome 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 594 of the KCNH2 protein (p.Gly594Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals clinical features of long QT syndrome (LQTS) (PMID: 22949429, 17905336, 19716085, 23098067, 23158531). ClinVar contains an entry for this variant (Variation ID: 67271). This variant has been reported to affect KCNH2 protein function (PMID: 25417810). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057987 SCV000089507 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:19716085;PMID:19841300). 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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