Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560513 | SCV000645337 | pathogenic | Hereditary spastic paraplegia 4 | 2022-10-03 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8-9 of the SPAST gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with hereditary spastic paraplegia (PMID: 19423133, 25065914). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |