Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411320 | SCV000485982 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2016-03-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001245824 | SCV001419138 | pathogenic | Spastic paraplegia | 2021-12-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SACS protein in which other variant(s) (p.Arg3903*) have been determined to be pathogenic (PMID: 19892370, 21745802). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 370621). This variant has not been reported in the literature in individuals affected with SACS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln2150Argfs*6) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2430 amino acid(s) of the SACS protein. |