Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813900 | SCV000954282 | pathogenic | Spastic paraplegia | 2018-07-26 | criteria provided, single submitter | clinical testing | 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 been observed as homozygous in an individual affected with an unspecified with autism spectrum disorder (PMID: 28330790). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp569*) in the SACS gene. It is expected to result in an absent or disrupted protein product. |