ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) (rs147748994)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717852 SCV000848712 uncertain significance Seizures 2017-01-12 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign)
Invitae RCV001212620 SCV001384209 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1782 of the SZT2 protein (p.Arg1782Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs147748994, ExAC 0.01%). This variant has not been reported in the literature in individuals with SZT2-related disease. ClinVar contains an entry for this variant (Variation ID: 433091). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655974 SCV000588250 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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