{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://erepo.genome.network/evrepo/api/summary/classification/a532eae1-862f-4d90-b69e-5e590a9f7512/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009861",
      "id": "MONDO:0009861",
      "label": "phenylketonuria",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/ei/1/1718",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2019/4/6",
                  "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/007",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "007",
              "label": "PM3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA229561/MONDO:0009861/006/ci/EV000000027",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                          "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                          "type": "Agent"
                        },
                        "comments": "Detected in trans with R408W",
                        "contributionDate": {
                          "date": "2019/4/6",
                          "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": "CA229561/MONDO:0009861/006/ci/EV000000027",
                    "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/10679941",
                    "type": "CuratorInference"
                  }
                ],
                "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/0/1717",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2019/4/6",
                  "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/CA229561/MONDO:0009861/006/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA229561/MONDO:0009861/006/ci/CA229561/MONDO:0009861/006.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                          "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                          "type": "Agent"
                        },
                        "comments": "Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.967",
                        "contributionDate": {
                          "date": "2019/4/6",
                          "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": "CA229561/MONDO:0009861/006/ci/CA229561/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/el/0/1798",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/ei/1/1799",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2019/4/6",
                  "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/0011",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0011",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/el/0/1798/1800",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA229561/MONDO:0009861/006/ci/CA229561/MONDO:0009861/006.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                          "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                          "type": "Agent"
                        },
                        "comments": "absent from ExAC, gnomAD, 1000G, ESP. PAGE MAF=0.00066",
                        "contributionDate": {
                          "date": "2019/4/6",
                          "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": "CA229561/MONDO:0009861/006/ci/CA229561/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/el/0/1831",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/ei/1/1832",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2019/4/6",
                  "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/0018",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0018",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229561/MONDO:0009861/006/el/0/1831/1833",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA229561/MONDO:0009861/006/ci/EV000000027",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                          "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                          "type": "Agent"
                        },
                        "comments": "302 PKU or HPA patients in 290 families were analyzed. Most of the patients were identified by neonatal screening. Cofactor deficiency was excluded by the BH4 test. Detected in a patient (SD) with classic PKU.",
                        "contributionDate": {
                          "date": "2019/4/6",
                          "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": "CA229561/MONDO:0009861/006/ci/EV000000027",
                    "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/10679941",
                    "type": "CuratorInference"
                  }
                ],
                "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006/0/1831",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA229561/MONDO:0009861/006",
    "metadata": {
      "created": "2024-09-27T19:40:28.612Z",
      "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, 27 Sep 2024 19:40:28 -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": "a532eae1-862f-4d90-b69e-5e590a9f7512",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA229561",
      "id": "CAR:CA229561",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000277.2:c.464G>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000277.2(PAH):c.464G>C (p.Arg155Pro)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-12T13:03:18.373Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}