ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12980del (p.Lys4327fs)

dbSNP: rs1555249371
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671013 SCV000795948 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-11-29 criteria provided, single submitter clinical testing
Invitae RCV001380633 SCV001578761 pathogenic Spastic paraplegia 2020-01-29 criteria provided, single submitter clinical testing 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.Asn4549Asp, p.Glu4510Argfs*4) have been determined to be pathogenic (PMID: 21507954, 15156359, 29915382). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 555233). 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.Lys4327Argfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 253 amino acids of the SACS protein.
Genome-Nilou Lab RCV000671013 SCV002027616 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 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.