ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2819T>G (p.Leu940Arg)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003340831 SCV004047592 uncertain significance Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing The missense variant p.L940R in ITGA2B (NM_000419.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.L940R variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between leucine and arginine. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Leu940Arg in ITGA2B is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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.