Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001215300 | SCV001387037 | pathogenic | Spastic paraplegia | 2022-06-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp8*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 944813). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003473764 | SCV004202308 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2022-03-22 | criteria provided, single submitter | clinical testing |