{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/5aff9fba-7c15-4ff6-87d5-4d90f4c313fd/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/CA386493311/MONDO:0009861/006/el/0/1798",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/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": "2022/10/14",
                  "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/CA386493311/MONDO:0009861/006/el/0/1798/1800",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386493311/MONDO:0009861/006/ci/CA386493311/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": "This variant is absent from population databases gnomAD and ExAC ",
                        "contributionDate": {
                          "date": "2022/10/14",
                          "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": "CA386493311/MONDO:0009861/006/ci/CA386493311/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/MONDO:0009861/006/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/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": "2022/10/14",
                  "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/CA386493311/MONDO:0009861/006/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386493311/MONDO:0009861/006/ci/CA386493311/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": "This variant was detected in trans with the ClinVar likely pathogenic variant p.Gly247Arg in a patient with PKU (PMID: 28982351). points=1.",
                        "contributionDate": {
                          "date": "2022/10/14",
                          "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": "CA386493311/MONDO:0009861/006/ci/CA386493311/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1717",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/MONDO:0009861/006/el/0/1780",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/MONDO:0009861/006/ei/1/1781",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/10/14",
                  "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/008",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "008",
              "label": "PM5",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/MONDO:0009861/006/el/0/1780/1782",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386493311/MONDO:0009861/006/ci/CA386493311/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": "Three other variants one of unknown significance (p.P366L) and two likely pathogenic (p.P366H) and (p.P366S)  have been documented in ClinVar at this amino acid residue.",
                        "contributionDate": {
                          "date": "2022/10/14",
                          "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": "CA386493311/MONDO:0009861/006/ci/CA386493311/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1780",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/MONDO:0009861/006/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/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": "2022/10/14",
                  "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/CA386493311/MONDO:0009861/006/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386493311/MONDO:0009861/006/ci/CA386493311/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": "Multiple lines of conflicting computation evidence predicted as benign in Polyphen, tolerated in Sift and disease causing in MutationTaster. revel score 0.608 also does not support this line of evidence.",
                        "contributionDate": {
                          "date": "2022/10/14",
                          "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": "CA386493311/MONDO:0009861/006/ci/CA386493311/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/MONDO:0009861/006/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/MONDO:0009861/006/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949",
                  "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/10/14",
                  "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/0063",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0063",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386493311/MONDO:0009861/006/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386493311/MONDO:0009861/006/ci/CA386493311/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": "Variant was detected in a patient affected with PKU (plasma Phe >120 umol/L). BH4 cofactor deficiency were excluded using the loading test PMID: 28982351\n",
                        "contributionDate": {
                          "date": "2022/10/14",
                          "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": "CA386493311/MONDO:0009861/006/ci/CA386493311/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006/0/1633",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA386493311/MONDO:0009861/006",
    "metadata": {
      "created": "2024-09-28T00:46:04.293Z",
      "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": "Sat, 28 Sep 2024 00:46:04 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "5aff9fba-7c15-4ff6-87d5-4d90f4c313fd",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA386493311",
      "id": "CAR:CA386493311",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001354304.2:c.1096C>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001354304.2:c.1096C>G"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T18:18:53.519Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}