{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/66c76f6b-187a-45ef-8513-3682f7e6973e/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1536422161", "label": "ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CYP1B1 Version 1.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "1.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0800472", "id": "MONDO:0800472", "label": "CYP1B1-related glaucoma with or without anterior segment dysgenesis", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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 likely pathogenic or pathogenic variant causing the same amino acid change has not been identified. ", "contributionDate": { "date": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1765", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1663", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1828", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/ei/1/1829", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "PS3_Supporting was not applied, as although the OddsPath threshold was met (> 2.1), the threshold for abnormal impact on protein function in the assays could not be determined (PMID: 27060699).\t \n", "contributionDate": { "date": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1828", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1651", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/ei/1/1652", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1651/1653", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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 been identified in four individuals with a CYP1B1-related phenotype. Two of these individuals are compound heterozygous for the variant and a pathogenic or likely pathogenic variant (1 phase unknown and 1 confirmed in trans) and two individuals are homozygous (non-consanguineous) (PMIDs: 21815720, 23218183, 25950505, ClinVar). Total proband points = 2.5, meeting PM3_Strong. \n", "contributionDate": { "date": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1651/1653", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1652", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1651", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1768", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/ei/1/1769", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1768/1770", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "Non-segregation involving this variant has not been reported.\n", "contributionDate": { "date": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1768/1770", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1769", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1768", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "contributionDate": { "date": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "This missense variant is located outside well-established functional domains.\n", "contributionDate": { "date": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1615", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50053_EP164427275875204", "id": "CG-PCER-AGENT:CG_50053_EP164427275875204", "type": "Agent" }, "comments": "No other likely pathogenic or pathogenic missense variant at this amino acid residue has been identified.\n", "contributionDate": { "date": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1591", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1591", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1594", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1594/1596", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1594", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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 = 0.717, which was within the 0.644-0.772 range for PP3, predicting a damaging effect on CYP1B1 function. \n", "contributionDate": { "date": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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) = 0.0000008475 (1 allele out of 1,179,982), which met the ≤ 0.0005 threshold set for PM2_Supporting in a genetic ancestry group of at least 2,000 alleles.\n", "contributionDate": { "date": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA346328674/MONDO:0800472/104/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": "2025/11/18", "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/CA346328674/MONDO:0800472/104/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "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": "2025/11/18", "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": "CA346328674/MONDO:0800472/104/ci/CA346328674/MONDO:0800472/104.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104/0/1777", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA346328674/MONDO:0800472/104", "metadata": { "created": "2025-11-18T22:26:01.210Z", "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": "Tue, 18 Nov 2025 22:26:01 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "66c76f6b-187a-45ef-8513-3682f7e6973e", "variant": { "@id": "https://reg.genome.network/allele/CA346328674", "id": "CAR:CA346328674", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000104.4:c.710C>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-31T11:19:39.768Z" } }, "status": { "code": 200, "name": "OK" } }