Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001853706 | SCV002234337 | pathogenic | not provided | 2022-08-18 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the PRKN gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with early-onset Parkinson's disease (PMID: 10983716, 24375549, 24677602, 25833766). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV000542884 | SCV000645373 | pathogenic | Autosomal recessive juvenile Parkinson disease 2 | 2018-06-26 | flagged submission | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 3-4 of the PARK2 gene. It preserves the integrity of the reading frame. A similar deletion of exons 3-4 has been reported in the literature in multiple individuals and families affected with early-onset Parkinson's disease (PMID: 10983716, 25833766, 24677602, 24375549). For these reasons, this variant has been classified as Pathogenic. |