ClinVar Miner

Submissions for variant NM_000824.5(GLRB):c.838A>G (p.Ile280Val)

gnomAD frequency: 0.00008  dbSNP: rs199840817
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002116912 SCV002395946 likely benign Hyperekplexia 2 2024-12-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003426318 SCV004118067 uncertain significance GLRB-related disorder 2023-09-14 criteria provided, single submitter clinical testing The GLRB c.838A>G variant is predicted to result in the amino acid substitution p.Ile280Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-158065045-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV004711801 SCV005256255 likely benign not provided criteria provided, single submitter not provided

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.