ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)

gnomAD frequency: 0.00001  dbSNP: rs750266004
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001956393 SCV002245814 pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-12-07 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with spinocerebellar ataxia (PMID: 27086870). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs750266004, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg228*) in the SYNE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 19542096, 24319099, 27086870).

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.