Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808384 | SCV000948492 | pathogenic | Spastic paraplegia | 2018-12-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys63*) in the SACS gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). This variant has not been reported in the literature in individuals with SACS-related conditions. This variant is not present in population databases (ExAC no frequency). |