ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) (rs398123287)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000425689 SCV000110348 uncertain significance not provided 2013-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000425689 SCV000516109 pathogenic not provided 2015-03-24 criteria provided, single submitter clinical testing The R500G missense variant in the OCRL gene has been reported previously, using alternatenomenclature (R483G), in association with Lowe syndrome (Satre et al., 1999). The R500G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R500G as a pathogenic variant.

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.