The c.440G>A variant in MYOC is a missense variant predicted to cause substitution of Arginine by Glutamine at amino acid 147 (p.Arg147Gln). The highest minor allele frequency of this variant was in the Ashkenazi Jewish population of gnomAD (v2.1.1) = 0.009836, which met the ≥ 0.001 threshold set for BS1 (102 alleles out of 10,370, meeting the threshold of ≥ 5 of at least 2,000 observed alleles). The REVEL score = 0.082, which met the ≤ 0.15 threshold for BP4, suggesting that the variant does not impact MYOC function. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. Only 1 proband with primary open angle glaucoma had been reported (pers. comm. F Pasutto), not meeting the ≥ 2 probands threshold required to meet PS4_Supporting. In summary, this variant met the criteria to receive a score of -5 and to be classified as likely benign (likely benign classification range -2 to -6) for primary open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): BS1, BP4.