The c.112T>C variant in GP9 is a missense variant predicted to cause substitution of Cysteine by Arginine at amino acid 38 (p.Cys38Arg). At least one patient (Patient 3 in PMID: 33553065) with this variant had less than 10% expression of GP9 measured by flow cytometry, which is highly specific for Bernard-Soulier syndrome. Additionally, the patient had macrothrombocytopenia which is consistent with Bernard-Soulier syndrome (PP4). This individual, was compound heterozygous for this variant and the c.182A>G (p.Asn61Ser) variant which was classified as Pathogenic by the PD VCEP. These were confirmed in trans by family testing (1 PM3 point, PM3). The computational predictor REVEL gives a score of 0.866, which is above the ClinGen PD VCEP threshold of >0.773 and predicts a damaging effect on function (PP3_Moderate). The largest MAF allele frequency in gnomAD v4.1.0 is 0.000001696 (based on 2/1179516 alleles) in the European (non-Finnish) population, which is lower than the ClinGen PD VCEP threshold (<0.0000329; 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: PP4, PM3, PP3 and PM3_Supporting (VCEP specifications version 1.1).