Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001953412 | SCV002238728 | pathogenic | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2021-08-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-23 of the ATP13A2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ATP13A2 are known to be pathogenic (PMID: 16964263, 21696388). |