ClinVar Miner

Submissions for variant NC_000006.12:g.(?_162201111)_(162262785_?)del

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Total submissions: 2
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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.

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