ClinVar Miner

Submissions for variant NC_000006.12:g.(?_162262505)_(162443493_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001865694 SCV002240937 pathogenic not provided 2022-08-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 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: 10824074, 17914726, 21215313, 23880019). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000531632 SCV000645375 pathogenic Autosomal recessive juvenile Parkinson disease 2 2017-12-22 flagged submission clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 2-3 of the PARK2 gene. It preserves the integrity of the reading frame. This variant has been reported in the compound heterozygous state in several individuals affected with early-onset Parkinson's disease (PMID: 21215313, 17914726, 23880019, 10824074). For these reasons, this variant has been classified as Pathogenic.

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