ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter)

dbSNP: rs1554121861
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760374 SCV000890237 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing The Q702X variant in the SYNGAP1 gene has been reported previously as an assumed de novo change in association with early onset epileptic encephalopathy (Carvill et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q702X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of Q702X is consistent with the diagnosis of a SYNGAP1-related disorder in this individual.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004017727 SCV004847185 pathogenic Intellectual disability, autosomal dominant 5 2023-04-20 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.