The c.987G>A (p.Trp329Ter) variant in GP1BA is a nonsense variant that may cause loss of function of the protein, however it is predicted to escape nonsense mediated decay and remove >10% of the protein (PVS1_Strong). At least one patient (Patient 1 in PMID: 26133172) 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 macrothrombocytopenia which is consistent with Bernard-Soulier syndrome (PP4). This variant has been detected in at least 1 proband with Bernard-Soulier syndrome (Case 1 in PMID: 26133172). This individual was homozygous for the variant (0.5 PM3 points, PM3_Supporting). Surface expression of GP1a and GP9 measured by flow cytometry and Western blot in CHO cells transiently co-transfected with c.987G>A (p.Trp329Ter) variant GP1a and wild type GP1b, and GP9 showed decreased expression at 1% WT levels, indicating that this variant impacts protein function (PMID: 26133172, PS3_supporting). The Grpmax Filtering allele frequency in gnomAD v4.1.0 is absent (based on 1/1179858 alleles) in the European (non Finnish) population, which is lower than the ClinGen PD VCEP threshold (<0.0001114; PM2_Supporting). In summary, this variant meets the criteria to be classified as Likely Pathogenic for autosomal recessive Bernard-Soulier syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PVS1_Strong, PP4, PM3_Supporintg, PS3_Supporting, and PM2_Supporting (VCEP specifications version 1).