Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411869 | SCV000486804 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2016-08-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387964 | SCV001588744 | pathogenic | Spastic paraplegia | 2022-02-03 | 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.Tyr4428*) have been determined to be pathogenic (Invitae). 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: 371265). This premature translational stop signal has been observed in individual(s) with SACS-related conditions (PMID: 30638817). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His1915Argfs*19) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2665 amino acid(s) of the SACS protein. |
Genome- |
RCV000411869 | SCV002027648 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing |