The c.137G>A (p.Trp46Ter) variant in GP1BB 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: 10887115) with this variant had aggregation absent for ristocetin and present for all other agonists and less than 10% expression of GPIba and GP9 measured by flow cytometry, which is highly specific for Bernard-Soulier syndrome. Additionally, the patient had excessive mucocutaneous bleeding which is consistent with Bernard-Soulier syndrome (PP4). This individual was homozygous for the variant (0.5 PM3 points, PM3_Supporting). The Grpmax Filtering allele frequency in gnomAD v4.1.0 is 0.00001886 (based on 29/1146916 alleles) in the European (non-Finnish) population, which is lower than the ClinGen PD VCEP threshold (<0.00006517; 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_Supporting and PM2_Supporting (VCEP specifications version 1).