Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001046270 | SCV001210166 | pathogenic | Spastic paraplegia | 2022-08-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg401*) 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 (rs769212398, gnomAD 0.0009%). 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: 843602). 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. |
Consultorio y Laboratorio de Neurogenética, |
RCV001261525 | SCV001424045 | pathogenic | Charlevoix-Saguenay spastic ataxia | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV001261525 | SCV002027669 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostics Laboratory, |
RCV001261525 | SCV002102830 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2016-01-01 | criteria provided, single submitter | clinical testing |