Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521561 | SCV000618805 | pathogenic | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27533158, 23250129, 32606552) |
Invitae | RCV001064306 | SCV001229198 | pathogenic | Spastic paraplegia | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1411*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3169 amino acid(s) of the SACS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive spastic ataxia of Charlevoix-Saguenay (PMID: 32606552). ClinVar contains an entry for this variant (Variation ID: 450250). 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. For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000984213 | SCV002027660 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000984213 | SCV004209889 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000984213 | SCV001132281 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2019-01-24 | no assertion criteria provided | clinical testing |