{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/399db6af-6807-459a-9953-39c259125cad/doc/sepio/version/2.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/635003679", "label": "ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYOC Version 2.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0005338", "id": "MONDO:0005338", "label": "open-angle glaucoma", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This criterion did not apply to this variant.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1825", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1826", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1825/1827", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/EV000001425", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "The Q368Ter protein is insoluble.\nThe assay in this study meets the OddsPath threshold for PS3_Supporting (> 2.1) (when combined with PMID: 10545602) but not the threshold for PS3_Moderate (> 4.3).", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/EV000001425", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/11004290", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1825/1827", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1826", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1825", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This criterion did not apply to this variant.\n", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This variant did not meet the ≥ 0.01 minor allele frequency threshold in gnomAD (v4.1.0).", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1766", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This variant does not involve an amino acid change.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1664", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This variant has not been identified de novo.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This variant is exempt from the rule which normally does not allow the application of PS4 unless PM2_Supporting is met.\n23 probands with JOAG or POAG have been reported carrying this variant (PMIDs: 11535458, 11004290, 10815160, 22736945, 11803488, 12189160), which met PS4 (≥15 probands). There were more probands published than presented here.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1648", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1649", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1648/1650", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "As this variant is exempt from the application of BS1, PP1 has been applied.\n52 segregations in 10 families, with juvenile or primary open angle glaucoma (JOAG or POAG), have been reported (PMIDs: 11004290, 10815160, 11535458), which fulfilled PP1_Strong (≥ 7 meioses in > 1 family). There were more family studies published than presented here.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1648/1650", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1649", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1648", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "Although this variant had a minor allele frequency of 0.003296 in the European (Finnish) genetic ancestry group of gnomAD (v4.1.0, 211 alleles out of 64,018), which meets the ≥ 0.001 threshold for BS1, Gln368Ter is exempt from this criterion due to its incomplete penetrance and the presence of a common disease haplotype in all carriers.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1589", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This criterion was not met as PS3_Moderate has been met.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], 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", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1592", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This truncating variant is predicted to cause a deletion of ≥ 10% of the protein and is within the conserved olfactomedin domain. ", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1591", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1798", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1799", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1798/1800", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "The highest minor allele frequency of this variant was in the European (Finnish) genetic ancestry group of gnomAD (v4.1.0) = 0.003296 (211 alleles out of 64,018), which did not meet the ≤ 0.0001 threshold set for PM2_Supporting.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1798/1800", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1799", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1798", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1594", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/ei/1/1595", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA119172/MONDO:0005338/019/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "PVS1 did not apply, as the disease mechanism for MYOC variants associated with primary open angle glaucoma is not loss-of-function.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA119172/MONDO:0005338/019/ci/CA119172/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019/0/1594", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA119172/MONDO:0005338/019", "metadata": { "created": "2026-01-12T23:21:56.610Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Mon, 12 Jan 2026 23:21:56 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "399db6af-6807-459a-9953-39c259125cad", "variant": { "@id": "https://reg.genome.network/allele/CA119172", "id": "CAR:CA119172", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000261.2:c.1102C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-06-02T17:54:30.312Z" } }, "status": { "code": 200, "name": "OK" } }