ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) (rs143880787)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805074 SCV000945017 uncertain significance not provided 2018-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 938 of the SZT2 protein (p.Ala938Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs143880787, ExAC 0.06%). This variant has been observed in an individual affected with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433087). 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: "Possibly 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.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655970 SCV000588246 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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