ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.7384C>T (p.Gln2462Ter)

dbSNP: rs765894452
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
Invitae RCV000641025 SCV000762636 uncertain significance Autosomal dominant Parkinson disease 8 2017-10-04 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LRRK2 cause disease. This variant has not been reported in the literature in individuals with LRRK2-related disease. This variant is present in population databases (rs765894452, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Gln2462*) in the LRRK2 gene. It is expected to result in an absent or disrupted protein product.

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.