ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp)

gnomAD frequency: 0.00001  dbSNP: rs752473314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217314 SCV001389148 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1322 of the SZT2 protein (p.Arg1322Trp). This variant is present in population databases (rs752473314, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 433089). 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.
Ambry Genetics RCV004965506 SCV005513586 uncertain significance Inborn genetic diseases 2024-09-16 criteria provided, single submitter clinical testing The c.3964C>T (p.R1322W) alteration is located in exon 27 (coding exon 27) of the SZT2 gene. This alteration results from a C to T substitution at nucleotide position 3964, causing the arginine (R) at amino acid position 1322 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000655972 SCV000588248 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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