ClinVar Miner

Submissions for variant NC_000004.11:g.(?_90647315)_(90756828_?)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 RCV000792149 SCV000931427 pathogenic Lewy body dementia; Autosomal dominant Parkinson disease 1 2019-11-26 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the SNCA gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Similar whole gene copy number gains of SNCA been reported in many individuals affected with Parkinson's disease, some of whom had psychiatric symptoms (PMID: 25003242, 19833540, 23880019, 24552873, 15451225). This variant has also been reported to segregate with autosomal dominant Parkinson's disease in multiple affected families (PMID: 18413475, 15451224, 19139307, 23880019, 18852445). For these reasons, this variant has been classified as Pathogenic.

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