The c.1357delT variant in MYOC is a deletion of a single nucleotide, predicted to encode a frameshift with consequent premature termination of the protein at codon 11 of the frameshift, or amino acid 464 (p.Tyr453MetfsTer11). This variant is predicted to cause a deletion of < 10% of the protein within the conserved olfactomedin domain, meeting PM4_Supporting. The highest minor allele frequency of this variant was in the African/African American population of gnomAD (v2.1.1) = 0.0008013 (20 alleles out of 24,960), which did not meet the PM2_Supporting allele frequency threshold (≤ 0.0001) or the BS1 allele frequency threshold (≥ 0.001). There was no computational or functional evidence predicting a damaging or benign impact of this variant on MYOC function. Only 2 segregations had been reported for primary open angle glaucoma (PMID: 25330346), not meeting the ≥ 3 segregations required for PP1. Although probands with juvenile or primary open angle glaucoma have been reported carrying this variant, PM2_Supporting was not met, therefore PS4 did not apply. In summary, this variant met the criteria to receive a score of 1 and to be classified as a variant of uncertain significance (uncertain significance classification range -1 to 5) for juvenile open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PM4_Supporting