ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10671dup (p.Ile3558fs)

dbSNP: rs2137573025
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
Invitae RCV001390548 SCV001592290 pathogenic Spastic paraplegia 2021-07-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SACS-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Tyr4538*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SACS gene (p.Ile3558Tyrfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1022 amino acids of the SACS protein.

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.