ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp)

dbSNP: rs1553154643
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002527162 SCV002992526 uncertain significance not provided 2022-04-16 criteria provided, single submitter clinical testing 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 disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 433095). This missense change has been observed in individual(s) with clinical features of SZT2-related conditions (PMID: 29358611). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2878 of the SZT2 protein (p.Arg2878Trp).
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000655978 SCV000588254 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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