Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804614 | SCV000944531 | pathogenic | Hereditary spastic paraplegia 4 | 2018-09-26 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 10-12 of the SPAST gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exons 10-12 has been observed in families affected with hereditary spastic paraplegia (PMID: 17035675, 17594340). Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic. |