{
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    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009861",
      "id": "MONDO:0009861",
      "label": "phenylketonuria",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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                },
                "contributionDate": {
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                          "type": "Agent"
                        },
                        "comments": "It is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). [Although there is frequency data retrieved for it in the PAGE/GGV browser in the ClinGen VCI, when the genomic coordinates for it are entered into the browser, nothing comes up…]",
                        "contributionDate": {
                          "date": "2024/11/18",
                          "description": "Date on which this evidence was provided"
                        },
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA386295444/MONDO:0009861/006/ci/CA386295444/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386295444/MONDO:0009861/006/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386295444/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": "2024/11/18",
                  "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/CA386295444/MONDO:0009861/006/el/0/1747/1749",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA386295444/MONDO:0009861/006/ci/CA386295444/MONDO:0009861/006.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                          "type": "Agent"
                        },
                        "comments": "The variant results in a substitution of a highly conserved Arg residue with Leucine; the two amino acid residues are physiochemically distinct (basic versus nonpolar side chains) and the substitution is predicted damaging by multiple lines of computational evidence, e.g., Predicted deleterious in SIFT, Polyphen2, Mutation Taster. REVEL= 0.979) (PP3).",
                        "contributionDate": {
                          "date": "2024/11/18",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA386295444/MONDO:0009861/006/ci/CA386295444/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386295444/MONDO:0009861/006/el/0/1780",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386295444/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": "2024/11/18",
                  "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/CA386295444/MONDO:0009861/006/el/0/1780/1782",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386295444/MONDO:0009861/006/ci/CA386295444/MONDO:0009861/006.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50015_EP155190578201949",
                          "type": "Agent"
                        },
                        "comments": "Other missense changes at this Arg (Arg261) have been previously reported Pathogenic or Likely Pathogenic in ClinVar, e.g., p.Arg261Gln (Pathogenic per internal PAH ClinGen Working Group classification, ClinVar ID 582), as well as p.Arg261Gly and p.Arg261Pro (PM5).",
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                          "date": "2024/11/18",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA386295444/MONDO:0009861/006/ci/CA386295444/MONDO:0009861/006.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006/0/1780",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA386295444/MONDO:0009861/006",
    "metadata": {
      "created": "2024-11-18T00:45:18.257Z",
      "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": "Mon, 18 Nov 2024 00:45:18 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.2.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "055ab2d3-4e6f-434a-99f2-3769457ebb64",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA386295444",
      "id": "CAR:CA386295444",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000277.2:c.782G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000277.2(PAH):c.782G>T (p.Arg261Leu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-06-07T02:20:01.679Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}