The NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp) missense variant is absent from gnomAD v4.1 (PM2_Supporting). The computational predictor REVEL gives a score of 0.966, which is above the ClinGen PD VCEP threshold of >0.7 and predicts a damaging effect on function (PP3). Another missense variant c.1813G>A (p.Gly605Ser) in the same codon has been classified as likely pathogenic for Glanzmann thrombasthenia by the ClinGen PD VCEP (PM5_supporting). This variant has been reported in one GT patient (PMID: 29615672), this patient 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 to 6-7%, as measured by flow cytometry (PP4_strong). This patient is compound heterozygous for Gly605Asp and Asn470Ter (classified Pathogenic by the PD-EP; confirmation of trans phase was not reported, PM3_supporting). 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: PM2_supporting, PM3_supporitng, PM5_supporting, PP3, PP4_strong. (VCEP specifications version 2)