ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.572G>A (p.Arg191Gln) (rs886042610)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000711776 SCV000335392 uncertain significance not provided 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711776 SCV000842172 likely pathogenic not provided 2019-09-26 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. This variant has been found in multiple unrelated patients that meet standard diagnostic criteria for the relevant disease. Predicted to have a damaging effect on the protein. One other pathogenic or likely pathogenic variant affects the same amino acid.
GeneDx RCV000711776 SCV001782913 pathogenic not provided 2019-10-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); This variant is associated with the following publications: (PMID: 31957151, 29207974, 29056535, 29510678, 24804978, 19309449, 16444761, 22060211, 19790256, 20337973, 24918535, 25555642, 27256595, 11508276)

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.