{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/1013949b-d83b-492b-adf2-b808a41e801c/doc/sepio/version/1.1.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1622722963",
      "label": "ClinGen Urea Cycle Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTC Version 1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010703",
      "id": "MONDO:0010703",
      "label": "ornithine carbamoyltransferase deficiency",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2424871675/MONDO:0010703/156/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2424871675/MONDO:0010703/156/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257",
                  "id": "CG-PCER-AGENT:CG_50100_EP177998198620257",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/9/11",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0030",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2424871675/MONDO:0010703/156/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2424871675/MONDO:0010703/156/ci/CA2424871675/MONDO:0010703/156.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257",
                          "id": "CG-PCER-AGENT:CG_50100_EP177998198620257",
                          "type": "Agent"
                        },
                        "comments": "Absent from gnomAD v4.1.0",
                        "contributionDate": {
                          "date": "2026/9/11",
                          "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": "CA2424871675/MONDO:0010703/156/ci/CA2424871675/MONDO:0010703/156.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2424871675/MONDO:0010703/156/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2424871675/MONDO:0010703/156/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2424871675/MONDO:0010703/156/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2424871675/MONDO:0010703/156/el/0/1591",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2424871675/MONDO:0010703/156/ei/1/1592",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257",
                  "id": "CG-PCER-AGENT:CG_50100_EP177998198620257",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/9/11",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/009",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "009",
              "label": "PM4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2424871675/MONDO:0010703/156/el/0/1591/1593",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2424871675/MONDO:0010703/156/ci/CA2424871675/MONDO:0010703/156.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50100_EP177998198620257",
                          "id": "CG-PCER-AGENT:CG_50100_EP177998198620257",
                          "type": "Agent"
                        },
                        "comments": "The Arg89 residue is located in the loop between the B3 beta-sheet and the H2 alpha-helix. The Arg89 residue is immediately adjacent to the STRT motif which is involved in carbamylphosphate binding and catalysis. ",
                        "contributionDate": {
                          "date": "2026/9/11",
                          "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": "CA2424871675/MONDO:0010703/156/ci/CA2424871675/MONDO:0010703/156.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2424871675/MONDO:0010703/156/0/1591/1593",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2424871675/MONDO:0010703/156/1/1592",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2424871675/MONDO:0010703/156/0/1591",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA2424871675/MONDO:0010703/156",
    "metadata": {
      "created": "2026-09-11T15:36:03.516Z",
      "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": "Fri, 11 Sep 2026 15:36:03 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "1013949b-d83b-492b-adf2-b808a41e801c",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA2424871675",
      "id": "CAR:CA2424871675",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000531.6:c.264AAG[1]"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000531.6(OTC):c.264AAG[1] (p.Arg89del)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T20:46:06.861Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}