Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001389169 | SCV001590436 | pathogenic | Spastic paraplegia | 2023-02-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val590Alafs*55) 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 premature translational stop signal has been observed in individuals with spastic ataxia of Charlevoix–Saguenay (ARSACS) (PMID: 26288984). For these reasons, this variant has been classified as Pathogenic. |
| DASA | RCV001849514 | SCV002107081 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2022-03-05 | criteria provided, single submitter | clinical testing | The c.1769_1770del;p.(Val590Alafs*55) is a null frameshift variant (NMD) in the SACS gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. . This variant is not present in population databases (rs1383333220- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The p.(Val590Alafs*55) was detected in a homozygous state in the analyzed sample - - PM3. In summary, the currently available evidence indicates that the variant is pathogenic. |
| Fulgent Genetics, |
RCV001849514 | SCV002810543 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-10-19 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001849514 | SCV004202324 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2021-11-03 | criteria provided, single submitter | clinical testing |