ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1510A>G (p.Met504Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814976 SCV000955416 uncertain significance Long QT syndrome 2018-07-30 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 844 of the KCNH2 protein (p.Met844Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KCNH2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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.

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