ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.950A>G (p.Asn317Ser) (rs779027664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458966 SCV000543433 uncertain significance Long QT syndrome 2016-08-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 317 of the KCNH2 protein (p.Asn317Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. The frequency data for this variant (rs779027664) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000765944 SCV000897365 uncertain significance Short QT syndrome 1; Long QT syndrome 2 2018-10-31 criteria provided, single submitter clinical testing

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