{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/a215a4e6-5a7d-4bee-9d62-6a854b218b95/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/CA343722837/MONDO:0005338/019/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/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": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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": "An established LP or P variant causing this same amino acid change has not been identified.\n\n", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/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": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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.\n", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1690", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/ei/1/1691", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1690/1692", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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 REVEL score = 0.798, which was within the 0.773-0.931 range for PP3_Moderate, predicting a damaging effect on MYOC function. \n", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1690/1692", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1691", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1690", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/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": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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 PM2_Supporting has been met.", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/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": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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_Supporting has been met.", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/ei/1/1655", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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 is not an intronic, synonymous or non-coding variant.\n", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1696", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/ei/1/1697", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1696/1698", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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 Ile499Ser protein had increased insolubility levels compared to wild type myocilin protein in this study (PMID: 11004290). The assay met the OddsPath threshold for PS3_Supporting (> 2.1) (when combined with PMID: 10545602) indicating that this variant did impact protein function.", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1696/1698", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1697", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1696", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1774", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/ei/1/1775", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1774/1776", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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": "Another missense variant (c.1495A>T, p.Ile499Phe, Grantham score = 21, ClinVarID: 1686792) in the same codon has been classified as likely pathogenic for juvenile open angle glaucoma by the ClinGen Glaucoma VCEP. The c.1496T>G, p.Ile499Ser variant has a higher Grantham score (= 142) than the previously classified amino acid change, was not predicted to affect splicing as assessed with SpliceAI (≤ 0.2), and met PP3, meeting the conditions for PM5_Supporting to apply.", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1774/1776", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1775", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1774", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/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": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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 cause a protein length change.", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1591", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/ei/1/1679", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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": "Only 1 segregation had been reported for juvenile open angle glaucoma (PMID: 11004290), not meeting the ≥ 3 segregations required for PP1.", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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 (non-Finnish) genetic ancestry group of gnomAD (v4.1.0) = 0.000001695 (2 alleles out of 1,180,016), which met the ≤ 0.0001 threshold set for PM2_Supporting in a genetic ancestry group of at least 10,000 alleles.\n", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1606", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/ei/1/1607", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1606/1608", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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": "2 probands with juvenile or primary open angle glaucoma have been reported carrying this variant (PMID: 11004290 and ANZRAG database [E. Souzeau pers. comm.]), which met PS4_Supporting (≥ 2 probands).\n", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1606/1608", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1607", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1606", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/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": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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 PP3 has been met.\n", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/MONDO:0005338/019/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA343722837/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": "2026/2/18", "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/CA343722837/MONDO:0005338/019/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343722837/MONDO:0005338/019/ci/CA343722837/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 PM2_Supporting has been met.\n", "contributionDate": { "date": "2026/2/18", "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": "CA343722837/MONDO:0005338/019/ci/CA343722837/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019/0/1777", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343722837/MONDO:0005338/019", "metadata": { "created": "2026-02-18T22:25:48.323Z", "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": "Wed, 18 Feb 2026 22:25:48 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "a215a4e6-5a7d-4bee-9d62-6a854b218b95", "variant": { "@id": "https://reg.genome.network/allele/CA343722837", "id": "CAR:CA343722837", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000261.2:c.1496T>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000261.2:c.1496T>G" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-06T04:43:13.511Z" } }, "status": { "code": 200, "name": "OK" } }