Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001386256 | SCV001586409 | pathogenic | not provided | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the PRKN 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 PRKN are known to be pathogenic (PMID: 10072423, 20301651, 22956510). A similar copy number variant has been observed in individual(s) with early onset Parkinson's disease (PMID: 12116199). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV000707954 | SCV000837064 | pathogenic | Autosomal recessive juvenile Parkinson disease 2 | 2018-02-21 | flagged submission | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 8 of the PARK2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exons 8 has been reported in combination with another PARK2 variant in an individual affected with early onset Parkinson's disease (PMID: 12116199). Loss-of-function variants in PARK2 are known to be pathogenic (PMID: 10072423, 20301651, 22956510). For these reasons, this variant has been classified as Pathogenic. |