The c.1085del variant in MYOC is a deletion of a single nucleotide, predicted to encode a frameshift with consequent premature termination of the protein at codon 45 of the frameshift, or amino acid 406 (p.Gly362GlufsTer45). This variant is predicted to involve ≥ 10% of the protein within the conserved olfactomedin domain, meeting PM4. This variant was not found in any population of gnomAD (v2.1.1), meeting the ≤ 0.0001 threshold set for PM2_Supporting in a population of at least 10,000 alleles. There was no computational or functional evidence predicting a damaging or benign impact of this variant on MYOC function. 4 segregations in 1 family, with primary open angle glaucoma (POAG), have been reported (PMID: 19688280), which fulfilled PP1 (3-4 meioses). Only 1 proband with POAG had been reported (PMID: 19688280), not meeting the ≥ 2 probands threshold required to meet PS4_Supporting. In summary, this variant met the criteria to receive a score of 4 and to be classified as a variant of uncertain significance (uncertain significance classification range -1 to 5) for primary open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PM4, PP1, PM2_Supporting.