ClinVar Miner

Submissions for variant NC_000006.11:g.(?_162683537)_(162864525_?)dup

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Total submissions: 2
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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.

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