ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter)

dbSNP: rs1064796403
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 RCV000478343 SCV000573101 pathogenic not provided 2017-02-16 criteria provided, single submitter clinical testing The W1157X variant in the SYNGAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W1157X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W1157X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003615842 SCV004537054 pathogenic Intellectual disability, autosomal dominant 5 2022-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1157*) in the SYNGAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNGAP1 are known to be pathogenic (PMID: 23161826, 23708187, 26989088). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 423403). For these reasons, this variant has been classified as Pathogenic.

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.