ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter)

dbSNP: rs757027813
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189652 SCV000243298 pathogenic not provided 2013-04-15 criteria provided, single submitter clinical testing p.Arg422Stop (CGA>TGA): c.1264 C>T in exon 10 of the SYN1 gene (NM_133499.2) The Arg422Stop mutation in the SYN1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations have been published in patients with SYN1-related disorders. Therefore, even though this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of an SYN1-related disorder. The variant is found in CHILD-EPI panel(s).
Institute for Human Genetics, University Hospital Essen RCV002291273 SCV002558868 pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2022-07-30 criteria provided, single submitter clinical testing
OMIM RCV002291273 SCV002583588 pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2022-11-22 no assertion criteria provided literature only

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.