{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/bf05c3e4-02c8-4fe4-83d8-8fbebe319aba/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/CA1244022/MONDO:0005338/019/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/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": "2026/2/5", "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/CA1244022/MONDO:0005338/019/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1244022/MONDO:0005338/019/ci/CA1244022/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": "No segregations have been reported for this variant.\n", "contributionDate": { "date": "2026/2/5", "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": "CA1244022/MONDO:0005338/019/ci/CA1244022/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/MONDO:0005338/019/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/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": "2026/2/5", "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/CA1244022/MONDO:0005338/019/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1244022/MONDO:0005338/019/ci/CA1244022/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 = 0.684, which was within the 0.644-0.772 range for PP3, predicting a damaging effect on MYOC function. 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"EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/MONDO:0005338/019/el/0/1588", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/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": "2026/2/5", "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/CA1244022/MONDO:0005338/019/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1244022/MONDO:0005338/019/ci/EV000001429", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "The results for the Pro481Ser protein were inconsistent and not included as evidence. \n", "contributionDate": { "date": "2026/2/5", "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": "CA1244022/MONDO:0005338/019/ci/EV000001429", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/35196929", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1588", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/MONDO:0005338/019/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/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": "2026/2/5", "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/CA1244022/MONDO:0005338/019/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1244022/MONDO:0005338/019/ci/CA1244022/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": "2026/2/5", "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": "CA1244022/MONDO:0005338/019/ci/CA1244022/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/MONDO:0005338/019/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/MONDO:0005338/019/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2026/2/5", "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/CA1244022/MONDO:0005338/019/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1244022/MONDO:0005338/019/ci/CA1244022/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": "PM5_Supporting could not be applied to this novel missense variant as although it did meet PP3, the Grantham score was lower (= 74) than the score for the different missense change at the same amino acid residue determined to be likely pathogenic by the ClinGen Glaucoma VCEP (c.1442C>T, p.Pro481Leu, Grantham score =98, ClinVar ID: 1686789).\n", "contributionDate": { "date": "2026/2/5", "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": "CA1244022/MONDO:0005338/019/ci/CA1244022/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/MONDO:0005338/019/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1244022/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": "2026/2/5", "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/CA1244022/MONDO:0005338/019/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA1244022/MONDO:0005338/019/ci/CA1244022/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": "2026/2/5", "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": "CA1244022/MONDO:0005338/019/ci/CA1244022/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019/0/1591", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA1244022/MONDO:0005338/019", "metadata": { "created": "2026-02-05T01:22:05.469Z", "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": "Thu, 05 Feb 2026 01:22:05 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "bf05c3e4-02c8-4fe4-83d8-8fbebe319aba", "variant": { "@id": "https://reg.genome.network/allele/CA1244022", "id": "CAR:CA1244022", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000261.2:c.1441C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000261.2:c.1441C>T" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T23:14:08.748Z" } }, "status": { "code": 200, "name": "OK" } }