ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.865G>A (p.Glu289Lys) (rs199472880)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202899 SCV000257649 uncertain significance Long QT syndrome 2 2015-06-25 criteria provided, single submitter clinical testing
Invitae RCV000460639 SCV000543436 uncertain significance Long QT syndrome 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 289 of the KCNH2 protein (p.Glu289Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in an individual affected with Romano-Ward syndrome (PMID: 19862833). ClinVar contains an entry for this variant (Variation ID: 67535). This variant has been reported not to substantially affect KCNH2 protein function (PMID: 26958806). 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.
Ambry Genetics RCV000619478 SCV000736437 uncertain significance Cardiovascular phenotype 2017-07-20 criteria provided, single submitter clinical testing Insufficient evidence
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000460639 SCV000740342 uncertain significance Long QT syndrome 2017-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765945 SCV000897366 uncertain significance Short QT syndrome 1; Long QT syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058264 SCV000089784 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:19862833). 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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