ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)

dbSNP: rs2137615500
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001993145 SCV002231701 pathogenic Spastic paraplegia 2021-02-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SACS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1942Metfs*9) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2638 amino acid(s) of the SACS protein. 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.Glu4510Argfs*4) have been determined to be pathogenic (PMID: 29915382, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease.
Revvity Omics, Revvity RCV003136367 SCV003827337 pathogenic Charlevoix-Saguenay spastic ataxia 2022-05-31 criteria provided, single submitter clinical testing

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.