Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461943 | SCV000563918 | pathogenic | Autosomal recessive juvenile Parkinson disease 2 | 2016-11-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-4 of the PARK2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PARK2 are known to be pathogenic. This particular variant has been reported in the literature (PMID: 23880019). For these reasons, this variant has been classified as Pathogenic. |