ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.9473G>A (p.Arg3158Gln)

gnomAD frequency: 0.00001  dbSNP: rs200187525
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802881 SCV000942728 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 648206). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs200187525, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3101 of the SZT2 protein (p.Arg3101Gln).
Ambry Genetics RCV002370125 SCV002686573 uncertain significance Inborn genetic diseases 2017-07-21 criteria provided, single submitter clinical testing The p.R3101Q variant (also known as c.9302G>A), located in coding exon 67 of the SZT2 gene, results from a G to A substitution at nucleotide position 9302. The arginine at codon 3101 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003457810 SCV004178078 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.