The c.1440C>G variant in MYOC is a missense variant predicted to cause substitution of Asparagine by Lysine at amino acid 480 (p.Asn480Lys). 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. The REVEL score = 0.784, which met the ≥ 0.7 threshold for PP3, predicting a damaging effect on MYOC function. Previous studies (PMIDs: 16466712 and 35196929) demonstrated that the Asn480Lys protein had increased insolubility and reduced secretion levels compared to wild type myocilin protein and met the OddsPath threshold for PS3_Moderate (> 4.3), indicating that this variant did impact protein function. 4 segregations in 1 family, with juvenile open angle glaucoma (JOAG), have been reported (PMID: 18303389), which fulfilled PP1 (3-4 meioses). Only 1 proband with JOAG had been reported (PMID: 18303389), not meeting the ≥ 2 probands threshold required to meet PS4_Supporting. The same amino acid change (p.Asn480Lys), resulting from a different nucleotide change (c.1440C>A, ClinVarID: 7951), was classified as pathogenic for JOAG by the ClinGen Glaucoma VCEP. This variant was not predicted to affect splicing, as assessed with SpliceAI (≤ 0.2) (PS1). In summary, this variant met the criteria to receive a score of 9 and to be classified as likely pathogenic (likely pathogenic classification range 6 to 9) for juvenile open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PS1, PS3_Moderate, PP1, PP3, PM2_Supporting.