{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/49573b1f-663f-4820-99c1-cd9eeebbc98e/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/CA121291/MONDO:0010703/156/el/0/1615",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/ei/1/1616",
            "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/006",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "006",
              "label": "PM1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/el/0/1615/1617",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA121291/MONDO:0010703/156/ci/CA121291/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": "Not in any of the designated hotspots per the OTC specifications",
                        "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": "CA121291/MONDO:0010703/156/ci/CA121291/MONDO:0010703/156.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/0/1615/1617",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/1/1616",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/0/1615",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/ei/1/1748",
            "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/0062",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0062",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA121291/MONDO:0010703/156/ci/CA121291/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": "REVEL score of 0.407 is lower than the 0.644 threshold for PP3 but higher than the OTC gene-specific 0.290 cut-off for BP4.",
                        "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": "CA121291/MONDO:0010703/156/ci/CA121291/MONDO:0010703/156.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/ei/1/1685",
            "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/0080",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                "id": "SEPIO:0000327",
                "label": "Benign Supporting"
              },
              "id": "0080",
              "label": "BP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA121291/MONDO:0010703/156/ci/CA121291/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": "REVEL score of 0.407 is lower than the 0.644 threshold for PP3 but higher than the OTC gene-specific 0.290 cut-off for BP4.",
                        "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": "CA121291/MONDO:0010703/156/ci/CA121291/MONDO:0010703/156.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/ei/1/1778",
            "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/0087",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000325",
                "id": "SEPIO:0000325",
                "label": "Benign Stand Alone"
              },
              "id": "0087",
              "label": "BA1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA121291/MONDO:0010703/156/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA121291/MONDO:0010703/156/ci/CA121291/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 frequency of the G allele is >1% in all populations except in East Asians, and has combined homo-/hemizygotes over one hundred thousand. BA1 applies per OTC-specific criteria established by the UCD VCEP.",
                        "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": "CA121291/MONDO:0010703/156/ci/CA121291/MONDO:0010703/156.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA121291/MONDO:0010703/156",
    "metadata": {
      "created": "2026-09-11T15:56:39.838Z",
      "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 15:56:39 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6675-8",
      "id": "LN:LA6675-8",
      "label": "Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "49573b1f-663f-4820-99c1-cd9eeebbc98e",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA121291",
      "id": "CAR:CA121291",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000531.6:c.137A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000531.6(OTC):c.137A>G (p.Lys46Arg)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-16T04:02:45.296Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}