ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) (rs55774500)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000762444 SCV000288585 benign not provided 2019-12-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455485 SCV000539992 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Identified in 1/344 patients with PD and in 0/340 controls. No new evidence since then. Several publications in HGMD describe it as polymorphism/ non pathogenic
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762444 SCV000892764 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
OMIM RCV000007454 SCV000027654 pathogenic Parkinson disease 2 2001-08-01 no assertion criteria provided literature only

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.