ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) (rs562214305)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655973 SCV000588249 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Invitae RCV000792412 SCV000931709 uncertain significance not provided 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1665 of the SZT2 protein (p.Arg1665His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs562214305, ExAC 0.06%). This variant has not been reported in the literature in individuals with SZT2-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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