Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001861920 | SCV002233487 | uncertain significance | not provided | 2021-12-09 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon(s) 2-3 of the PRKN gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with early-onset Parkinson's disease (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Invitae | RCV000707761 | SCV000836871 | uncertain significance | Autosomal recessive juvenile Parkinson disease 2 | 2018-05-24 | flagged submission | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 2-3 of the PARK2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number gain of exons 2-3 has been reported in an individual affected with early onset Parkinson's disease (PMID: 12764050). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |