ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2033T>C (p.Leu678Pro) (rs199472981)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232888 SCV000283970 uncertain significance Long QT syndrome 2016-04-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 678 of the KCNH2 protein (p.Leu678Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline This variant is not present in population databases (ExAC no frequency) This variant has been reported in a Long QT syndrome patient (PMID: 19716085). ClinVar contains an entry for this variant (Variation ID: 67356). 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, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058076 SCV000089596 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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