Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062044 | SCV001226814 | pathogenic | Spastic paraplegia | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu128Serfs*2) in the SACS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). This variant is present in population databases (rs757179309, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with SACS-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 856558). For these reasons, this variant has been classified as Pathogenic. |
Athena Diagnostics Inc | RCV001289169 | SCV001476815 | pathogenic | not provided | 2020-07-02 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity. |
Genome- |
RCV001785775 | SCV002027677 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001785775 | SCV004209937 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2023-08-10 | criteria provided, single submitter | clinical testing |