ClinVar Miner

Submissions for variant NC_000006.11:g.(?_161768590)_(162475206_?)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 RCV000463671 SCV000563921 uncertain significance Autosomal recessive juvenile Parkinson disease 2 2016-08-05 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 5-12 of the PARK2 gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This duplication has not been reported in individuals with a PARK2-related disease. In summary, this is a novel, partial duplication of PARK2. Whether the additional copy of these exons occurs in tandem is unknown, and the impact on PARK2 gene function is uncertain. For these reasons, it has been classified as a Variant of Uncertain Significance.

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