ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln)

gnomAD frequency: 0.00003  dbSNP: rs769405222
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
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001290504 SCV001478545 pathogenic Glanzmann thrombasthenia 2020-11-10 reviewed by expert panel curation The NM_000419.4:c.1652G>A (p.Arg551Gln) variant is reported in at least 4 homozygous GT probands in the literature (PMIDs: 26096001, 29675921, 19172520) as well as two additional affected family members (PMID: 26096001). It is found at an extremely low frequency with a MAF of 0.00006536 in the South Asian gnomAD population. And it is predicted damaging by in-silico tools (REVEL score of 0.739). It occurs at the same amino acid residue as Pathogenic variant NM_000419.5:c.1651C>T (p.Arg551Trp). In summary, this variant meets criteria to be classified as Pathogenic for GT. GT-specific criteria applied: PM2_Supporting, PM3, PP1_Moderate, PP3, PP4_Strong, and PM5.

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.