Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644907 | SCV000766625 | pathogenic | Hereditary spastic paraplegia 4 | 2017-10-02 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 5-9 of the SPAST gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This copy number variant has not been reported in the literature in individuals with SPAST-related disease.  Smaller deletions of this region, which also create a truncated SPAST protein, have been reported in several individuals affected with hereditary spastic paraplegia (PMID: 25065914, 17098887). Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic. |