ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter)

gnomAD frequency: 0.00001  dbSNP: rs764896693
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
CeGaT Center for Human Genetics Tuebingen RCV001200332 SCV001371260 likely pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226758 SCV002505723 likely pathogenic Developmental and epileptic encephalopathy, 18 2021-08-01 criteria provided, single submitter clinical testing
Invitae RCV001200332 SCV003514989 pathogenic not provided 2022-12-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 932499). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs764896693, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg1912*) in the SZT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SZT2 are known to be pathogenic (PMID: 23932106, 27248490, 28556953).
Genome-Nilou Lab RCV002226758 SCV004177836 likely pathogenic 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.