Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032604 | SCV001195911 | pathogenic | Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 | 2019-09-06 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the KIF1A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A similar deletion has been observed in the heterozygous state in individuals affected with hereditary spastic paraplegia and intellectual disability and/or developmental delay (Invitae). Loss-of-function variants in KIF1A are known to be pathogenic (PMID: 21820098). For these reasons, this variant has been classified as Pathogenic. |