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      ],
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      "metadata": {
        "created": "2025-05-15T16:00:34.698Z",
        "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, 15 May 2025 16:00:34 -0000",
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                    }
                  ],
                  "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/0/1798/1800",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/1/1799",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/0/1798",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA273110/MONDO:0009861/006/el/0/1831",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA273110/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/CA273110/MONDO:0009861/006/el/0/1831/1833",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA273110/MONDO:0009861/006/ci/EV000000023",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                            "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                            "type": "Agent"
                          },
                          "comments": "5 patients who are E178G compound heterozygotes (1 Moderate PKU, 1 Classic PKU, 3 Mild PKU). The patients were tested for the exclusion of lacking the cofactor BH4 for the differential characterization of the cause for the absent of PAH.",
                          "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": "CA273110/MONDO:0009861/006/ci/EV000000023",
                      "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/18294361",
                      "type": "CuratorInference"
                    },
                    {
                      "@id": "CG-PCER:curatorInference/CA273110/MONDO:0009861/006/ci/EV000000008",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                            "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                            "type": "Agent"
                          },
                          "comments": "E178G detected in 1 pateint with mild hyperphenylalaninemia (HPA). PAH deficiency had been assessed after exclusion of a defect in tetrahydrobiopterin metabolism.",
                          "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": "CA273110/MONDO:0009861/006/ci/EV000000008",
                      "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/9634518",
                      "type": "CuratorInference"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/0/1831/1833",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/1/1832",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/0/1831",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA273110/MONDO:0009861/006/el/0/1828",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA273110/MONDO:0009861/006/ei/1/1829",
              "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/0052",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                  "id": "SEPIO:0000330",
                  "label": "Pathogenic Strong"
                },
                "id": "0052",
                "label": "PS3",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA273110/MONDO:0009861/006/el/0/1828/1830",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA273110/MONDO:0009861/006/ci/EV000000022",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                            "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                            "type": "Agent"
                          },
                          "comments": "39% residual phenylalanine hydroxylase activity",
                          "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": "CA273110/MONDO:0009861/006/ci/EV000000022",
                      "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/17935162",
                      "type": "CuratorInference"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/0/1828/1830",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/1/1829",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/0/1828",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA273110/MONDO:0009861/006/el/0/1651",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA273110/MONDO:0009861/006/ei/1/1652",
              "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/0058",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                  "id": "SEPIO:0000330",
                  "label": "Pathogenic Strong"
                },
                "id": "0058",
                "label": "PM3",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA273110/MONDO:0009861/006/el/0/1651/1653",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA273110/MONDO:0009861/006/ci/EV000000023",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                            "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                            "type": "Agent"
                          },
                          "comments": "Detected with R408W (VarID577, Path), P281L (VarID589, Path), R261Q (VarID582, P/LP), L48S (VarID608, Path)",
                          "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": "CA273110/MONDO:0009861/006/ci/EV000000023",
                      "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/18294361",
                      "type": "CuratorInference"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/0/1651/1653",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/1/1652",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006/0/1651",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA273110/MONDO:0009861/006",
      "metadata": {
        "created": "2024-09-27T19:40:20.090Z",
        "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 19:40:19 -0000",
        "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
        "version": "1.0.0"
      },
      "statementOutcome": {
        "@id": "https://loinc.org/LA6668-3",
        "id": "LN:LA6668-3",
        "label": "Pathogenic"
      },
      "type": "VariantPathogenicityInterpretation",
      "uuid": "9cbb36d6-2daf-4507-b947-3a692ec4d9e7",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA273110",
        "id": "CAR:CA273110",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_000277.2:c.533A>G"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_000277.2(PAH):c.533A>G (p.Glu178Gly)"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-28T12:10:00.154Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}