ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1814C>T (p.Pro605Leu) (rs199472938)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631723 SCV000752811 uncertain significance Long QT syndrome 2017-12-05 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 605 of the KCNH2 protein (p.Pro605Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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. ClinVar contains an entry for this variant (Variation ID: 67284). Experimental studies have shown that this missense change causes the KCNH2 protein to be trafficking-deficient (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.
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000735254 SCV000863463 pathogenic Long QT syndrome 2 2018-07-11 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058000 SCV000089520 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). 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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