Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031612 | SCV001194918 | pathogenic | Hereditary spastic paraplegia 4 | 2019-04-22 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 15-17 of the SPAST gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has been observed in an individual affected with hereditary spastic paraplegia (PMID: 29980238). Sub-genic deletion of exon 17 has been determined to be pathogenic (PMID: 11134375, 17035675, 17345589). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |