ClinVar Miner

Submissions for variant NC_000006.11:g.(?_162206784)_(162206960_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792141 SCV000931419 pathogenic Autosomal recessive juvenile Parkinson disease 2 2018-08-06 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 7 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) and may result in an absent or disrupted protein product. Similar copy number gains of exon 7 have been observed in combination with or on the opposite chromosome (in trans) from other pathogenic variants in individuals and families affected with early-onset Parkinson’s disease (PMID: 11889248, 21993715), and have also been observed to segregate with disease in affected families (PMID: 21993715). Loss-of-function variants in PARK2 are known to be pathogenic (PMID: 10072423, 20301651, 22956510). For these reasons, this variant has been classified as Pathogenic.

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