Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470443 | SCV000552969 | pathogenic | Spastic paraplegia | 2016-07-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in SACS are known to be pathogenic (PMID: 18465152). This sequence change deletes 4 nucleotides from exon 10 of the SACS mRNA (c.9561_9564delGTTT), causing a frameshift at codon 3188. This creates a premature translational stop signal in the last exon of the SACS mRNA (p.Phe3188*). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated SACS protein. |
Biochemical Molecular Genetic Laboratory, |
RCV001283763 | SCV001469132 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2020-08-07 | no assertion criteria provided | clinical testing |