ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs)

dbSNP: rs2151190135
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543502 SCV001762114 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV002250764 SCV002521307 pathogenic Intellectual disability, autosomal dominant 5 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be disease-causing (ClinVar ID: VCV001184918). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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.