ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr)

dbSNP: rs2048616842
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 RCV001290494 SCV001478533 uncertain significance Glanzmann thrombasthenia 2020-11-06 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) missense variant has been reported in at least one homozygous GT proband (PMID: 32089034). The variant is absent from a population databases including gnomAD. Computational evidence supports a deleterious effect with a REVEL score of 0.737. In summary there is insufficient evidence at this time to classify this variant for GT. GT-specific criteria applied: PM2_Supporting, PM3_Supporting, PP3, and PP4_Moderate.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV003313793 SCV004013052 likely 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.