The NM_000419.5(ITGA2B):c.3091del variant causes a frameshift and subsequent stop loss, Leu1031TrpfsTer97. This results in the addition of 90 amino acids to the ITGA2B protein, beyond the cytoplasmic domain (PM4). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). At least one patient (Patient GT10 in PMID:25373348) with this variant displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia. Additionally, αIIbβ3 surface expression was severely reduced, as measured by flow cytometry (PP4_strong). GT10 of PMID: 25373348 is compound heterozygous for the paternal c.1210+105A>G (classified Likely Pathogenic by the PD-EP) and the maternal c.3091delC variants (PM3). In summary this variant meets 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: PP4_strong, PM2_supporting, PM3, PM4. (VCEP specifications version 2; date of approval 03/15/2022)