ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln)

gnomAD frequency: 0.00009  dbSNP: rs374546223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819767 SCV000960446 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2203 of the SZT2 protein (p.Arg2203Gln). This variant is present in population databases (rs374546223, gnomAD 0.03%). 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: 662175). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SZT2 protein function with a negative predictive value of 80%. 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.
New York Genome Center RCV002265897 SCV002548776 uncertain significance Developmental and epileptic encephalopathy, 18 2021-09-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002265897 SCV003818897 uncertain significance Developmental and epileptic encephalopathy, 18 2021-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002265897 SCV004179180 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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