ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7013G>A (p.Arg2338His)

gnomAD frequency: 0.00002  dbSNP: rs777078813
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817295 SCV000957847 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2281 of the SZT2 protein (p.Arg2281His). This variant is present in population databases (rs777078813, gnomAD 0.01%). 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: 660164). 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV000817295 SCV001247449 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537420 SCV003739807 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.6842G>A (p.R2281H) alteration is located in exon 49 (coding exon 49) of the SZT2 gene. This alteration results from a G to A substitution at nucleotide position 6842, causing the arginine (R) at amino acid position 2281 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003457834 SCV004180253 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.