ClinVar Miner

Submissions for variant NM_000345.4(SNCA):c.*464C>A

gnomAD frequency: 0.00002  dbSNP: rs183204610
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320355 SCV001511137 uncertain significance Lewy body dementia; Autosomal dominant Parkinson disease 1 2020-01-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to affect SNCA protein function (PMID: 23674501). This variant has been observed in individual(s) with early-onset Parkinson's disease (PMID: 23674501, Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant occurs in a non-coding region of the SNCA gene. It does not change the encoded amino acid sequence of the SNCA protein.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.