Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409079 | SCV000485969 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2016-03-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001243148 | SCV001416285 | pathogenic | Spastic paraplegia | 2023-06-19 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 370608). 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.Ser397Cysfs*8) 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). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000409079 | SCV002027670 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing |