{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/dda7ffed-eb9f-4830-bcc7-6648991bd1af/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637578",
      "label": "ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
    "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/CA114359/MONDO:0009861/006/el/0/1696",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/ei/1/1697",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/15",
                  "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/CA114359/MONDO:0009861/006/el/0/1696/1698",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA114359/MONDO:0009861/006/ci/CA114359/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": "22-28% PAH enzyme activity of wild type (pcDNA3/IVT, mammalian transcription-translation system) PMID: 11161839",
                        "contributionDate": {
                          "date": "2026/4/15",
                          "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": "CA114359/MONDO:0009861/006/ci/CA114359/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1696/1698",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/1/1697",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1696",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/el/0/1831",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/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": "2026/4/15",
                  "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/CA114359/MONDO:0009861/006/el/0/1831/1833",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA114359/MONDO:0009861/006/ci/CA114359/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": "Detected in Proband 18811 with Phe 258uM, Urinary pterin analysis and DHPR activity measurements excluded a BH4 deficiency.   PMID: 15464430",
                        "contributionDate": {
                          "date": "2026/4/15",
                          "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": "CA114359/MONDO:0009861/006/ci/CA114359/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1831",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/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": "2026/4/15",
                  "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/CA114359/MONDO:0009861/006/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA114359/MONDO:0009861/006/ci/CA114359/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": "REVEL=0.633",
                        "contributionDate": {
                          "date": "2026/4/15",
                          "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": "CA114359/MONDO:0009861/006/ci/CA114359/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/15",
                  "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/CA114359/MONDO:0009861/006/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA114359/MONDO:0009861/006/ci/CA114359/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": "Extremely low frequency in gnomAD v4.1 (AF=0.0001159)",
                        "contributionDate": {
                          "date": "2026/4/15",
                          "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": "CA114359/MONDO:0009861/006/ci/CA114359/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/el/0/1669",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/ei/1/1670",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/15",
                  "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/CA114359/MONDO:0009861/006/el/0/1669/1671",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA114359/MONDO:0009861/006/ci/CA114359/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": "Detected in trans with c.1055delG (pathogenic in ClinVar), confirmed by parental testing PMID: 23514811 [1 point]; F39L (Path by VCEP) unknown phase, R408W (Path by VCEP) unknown phase PMID: 8088845 [1 point]; IVS10 (Path by VCEP) unknown phase PMID: 10495930 [0.5 points]; S349P (P/LP) in trans  PMID: 15464430 [1 point]; c.1065+1G>A (LP by VCEP) unknown phase  PMID: 26666653 [0.25 points]; P281L (LP by VCEP) unknown phase  PMID: 31623983 [0.25 points]. 4.0 points",
                        "contributionDate": {
                          "date": "2026/4/15",
                          "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": "CA114359/MONDO:0009861/006/ci/CA114359/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1669/1671",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/1/1670",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1669",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/el/0/1615",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA114359/MONDO:0009861/006/ei/1/1616",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/15",
                  "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/CA114359/MONDO:0009861/006/el/0/1615/1617",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA114359/MONDO:0009861/006/ci/CA114359/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"
                        },
                        "contributionDate": {
                          "date": "2026/4/15",
                          "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": "CA114359/MONDO:0009861/006/ci/CA114359/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1615/1617",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/1/1616",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006/0/1615",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA114359/MONDO:0009861/006",
    "metadata": {
      "created": "2026-04-15T18:37:32.404Z",
      "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": "Wed, 15 Apr 2026 18:37:32 -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": "dda7ffed-eb9f-4830-bcc7-6648991bd1af",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA114359",
      "id": "CAR:CA114359",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000277.3:c.261C>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000277.3(PAH):c.261C>A (p.Ser87Arg)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-02T21:33:41.214Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}