ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2204C>T (p.Pro735Leu) (rs199473028)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000148530 SCV000962559 uncertain significance Long QT syndrome 2018-11-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1075 of the KCNH2 protein (p.Pro1075Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs199473028, ExAC 0.02%). This variant has been reported in an individual affected with long QT syndrome (PMID: 17905336). ClinVar contains an entry for this variant (Variation ID: 67481). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000058210 SCV000089730 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:17905336). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
CSER_CC_NCGL; University of Washington Medical Center RCV000148530 SCV000190242 uncertain significance Long QT syndrome 2014-06-01 no assertion criteria provided research

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