ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs)

dbSNP: rs1291802895
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 RCV001290461 SCV001478497 likely pathogenic Glanzmann thrombasthenia 2023-05-16 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.3017dup (p.Gly1007TrpfsTer29) frameshift variant alters around 50% of the transmembrane domain of GPIIb, which has been defined as a region critical to protein function (PVS1_strong). It has been observed in one compound heterozygous GT patient in trans with Tyr471Ter (classified Pathogenic by the PD-VCEP; PM3) as well as one additional family member (PMID: 9798966). It is found at a low allele frequency of 0.00002892 in the gnomAD Latino population (PM2_supporting). In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_Supporting, PM3, PVS1_strong (PD VCEP specifications version 2.1).

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.