ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2965del (p.Ala989fs)

dbSNP: rs2048521625
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
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001225294 SCV001397572 likely pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The c.2965del (p.Ala989Profs) has been described in one homozygous case and one compound heterozygote (PMIDs: 25539746, 28983057) with phenotypes highly specific to GT. This frameshift variant occurs in exon 28 and results in 51 altered amino acids followed by as stop loss and the elongation of the protein by 90 amino acids. The variant is absent from population databases including gnomAD, ExAC, and 1000 Genomes. In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PM2_supporting, PVS1_strong, PM3, PP4_moderate.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222679 SCV002500887 pathogenic Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing

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.