ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1517C>T (p.Pro506Leu) (rs1060500669)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459672 SCV000543456 uncertain significance Long QT syndrome 2017-10-11 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 846 of the KCNH2 protein (p.Pro846Leu). 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 a KCNH2-related disease. 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 variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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