Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033018 | SCV001196325 | pathogenic | Hereditary spastic paraplegia 4 | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4-7 of the SPAST gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). A similar copy number variant has been observed in individuals with clinical features of spastic paraplegia (PMID: 22203332). For these reasons, this variant has been classified as Pathogenic. |