Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001387164 | SCV001587723 | pathogenic | Spastic paraplegia | 2023-04-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1670Leufs*20) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2910 amino acid(s) of the SACS protein. This premature translational stop signal has been observed in individual(s) with SACS-related conditions (PMID: 26288984). 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. |
| Athena Diagnostics Inc | RCV002473290 | SCV002770981 | pathogenic | not provided | 2021-10-29 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. |