ClinVar Miner

Submissions for variant NM_177402.5(SYT2):c.725dup (p.Val243fs)

dbSNP: rs2149068434
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
Breakthrough Genomics, Breakthrough Genomics RCV001553809 SCV005088785 pathogenic Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 2023-03-06 criteria provided, single submitter clinical testing This variant was previously reported in patients with presynaptic congenital myasthenic syndrome in homozygous state [PMID: 32776697]. Loss-of-function variants in the SYT2 gene are known to be pathogenic [PMID: 32776697].
OMIM RCV001553809 SCV001774829 pathogenic Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 2021-08-06 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.