Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033197 | SCV001196504 | pathogenic | Hereditary spastic paraplegia 4 | 2019-12-31 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the SPAST gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Similar copy number variants have been observed in individual(s) with spastic paraplegia (PMID: 17594340, 25065914). Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic. |