ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile)

gnomAD frequency: 0.00001  dbSNP: rs745970630
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316781 SCV000850510 uncertain significance Inborn genetic diseases 2017-12-27 criteria provided, single submitter clinical testing The p.L1601I variant (also known as c.4801T>A), located in coding exon 33 of the SZT2 gene, results from a T to A substitution at nucleotide position 4801. The leucine at codon 1601 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved through mammals but not in all 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.
Invitae RCV001217761 SCV001389613 uncertain significance not provided 2022-11-02 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: 589554). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs745970630, gnomAD 0.009%). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1601 of the SZT2 protein (p.Leu1601Ile).
Baylor Genetics RCV001330841 SCV001522669 uncertain significance Developmental and epileptic encephalopathy, 18 2020-01-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
New York Genome Center RCV001330841 SCV001815784 uncertain significance Developmental and epileptic encephalopathy, 18 2020-08-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001330841 SCV004180170 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.