NM_000212.3(ITGB3):c.450G>A (p.Met150Ile) has a computational predictor REVEL gives a score of 0.908, which is above the ClinGen Platelet Disorders VCEP threshold of >0.7 and predicts a damaging effect on function (PP3). Another missense variant NM_000212.3(ITGB3):c.448A>G (p.Met150Val) in the same codon has been classified as likely pathogenic for Glanzmann thrombasthenia by the ClinGen PD VCEP (PM5_supporting). The highest population minor allele frequency in gnomAD v4.1 is 8.474e-7 (1/1180040 alleles) in the European (non-Finnish) population, which is lower than the ClinGen Platelet Disorders VCEP threshold (<0.0001; PM2_Supporting). At least one homozygous (PM3_supporting) patient (Patient 6 in PMID: 40239810) with this variant displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia (PP4_moderate). Additionally, αIIbβ3 surface expression was reduced to 2.7% (<25%), as measured by flow cytometry (PP4_Moderate). 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: PP4_moderate, PM3_supporting, PM2_supporting, PP3, PM5_supporting. (VCEP specifications version 2).