Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001950930 | SCV002234348 | pathogenic | Spastic paraplegia | 2023-04-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SACS protein in which other variant(s) (p.Tyr4538*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1456008). This variant is also known as c.12398delT, p.Phe4133Serfs*28. This premature translational stop signal has been observed in individual(s) with clinical features of hereditary spastic paraplegia (PMID: 31230722). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Phe4280Serfs*28) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 300 amino acid(s) of the SACS protein. |
| Baylor Genetics | RCV003471168 | SCV004210015 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2023-03-11 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics | RCV004999573 | SCV005621769 | likely pathogenic | not provided | 2024-06-26 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity. (http://gnomad.broadinstitute.org) Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing. |