Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004402 | SCV001163374 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | criteria provided, single submitter | clinical testing | ||
Invitae | RCV003750840 | SCV004516032 | pathogenic | Spastic paraplegia | 2022-11-12 | 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.Asn4549Asp) have been determined to be pathogenic (PMID: 15156359, 21507954). 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: 813434). This variant has not been reported in the literature in individuals affected with SACS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln3516*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1064 amino acid(s) of the SACS protein. |