The c.466G>A (p.Ala156Thr) variant in GP9 is a missense variant predicted to cause substitution of alanine by threonine at amino acid 156. At least one patient (Case in PMID:15351858 or internal) with this variant had aggregation absent for ristocetin and present for all other agonists, which is highly specific for Bernard-Soulier syndrome. Additionally, the patient had excessive mucocutaneous bleeding and macrothrombocytopenia which is consistent with Bernard-Soulier syndrome, however this variant has a Grpmax Filtering allele frequency in gnomAD v4.1 is 0.2194 (based on 9530/42710 alleles) in the East Asian population, which is higher than the ClinGen PD VCEP threshold (>0.001), and therefore meets this criterion (BA1). The computational predictor REVEL gives a score of 0.187, which is below the ClinGen PD VCEP threshold of <0.290 and predicts no damaging effect on GP9 function and splicing predictor SpliceAI predicts no impact on splicing with delta scores of 0.00 (BP4). Surface expression of GPIBa and GP9 measured by flow cytometry in CHO cells in cells transiently co-transfected with the c.466G>A variant and wild type GP1a and GP1b showed decreased expression at very low (<25%) WT levels, indicating that this variant impacts protein function (PMID:15351858)(PS3_supporting). In summary with BP4 (-1), BA1, PS3_supporting (+1), the other criteria cancel out and BA1 alone provides a Benign classification, ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP.