ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1369del (p.Asp457fs)

dbSNP: rs1554768245
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000625981 SCV000746586 pathogenic Autosomal recessive ataxia, Beauce type 2016-10-04 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID: 18414213) and was found homozygous in a 41-year-old female with apparently sporadic pure cerebellar ataxia.

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.