ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.779C>T (p.Ala260Val) (rs1228602666)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692137 SCV000819946 uncertain significance Long QT syndrome 2018-03-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 260 of the KCNH2 protein (p.Ala260Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. While this variant is not present in population databases, the frequency information is 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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