ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3508_3509del (p.Ser1170fs)

dbSNP: rs1581998105
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 RCV004789311 SCV005401517 pathogenic not provided 2024-05-13 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32581362, 37541188)
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003591 SCV001161968 likely pathogenic Microcephaly; Epileptic encephalopathy no assertion criteria provided research

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.