{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/29080ea6-8328-4407-b6f6-59950e3aec2f/doc/sepio/version/2.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467903868",
      "label": "ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 3.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "3.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0015967",
      "id": "MONDO:0015967",
      "label": "monogenic diabetes",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/el/0/1831",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/ei/1/1832",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/28",
                  "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/CA386965901/MONDO:0015967/017/el/0/1831/1833",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant was identified in an individual with a clinical history highly specific for HNF1A-monogenic diabetes (MODY probability estimated between 45.5-75.5% based on available clinical information, negative genetic testing for HNF4A, and antibody negative) (PP4_Moderate; internal lab contributor).",
                        "contributionDate": {
                          "date": "2026/1/28",
                          "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": "CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1831",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/28",
                  "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/CA386965901/MONDO:0015967/017/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant is predicted to be deleterious by computational evidence, with a REVEL score of 0.924, which is greater than the MDEP VCEP threshold of 0.70 (PP3). ",
                        "contributionDate": {
                          "date": "2026/1/28",
                          "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": "CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/28",
                  "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/CA386965901/MONDO:0015967/017/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2026/1/28",
                          "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": "CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/el/0/1681",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/ei/1/1682",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/28",
                  "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/CA386965901/MONDO:0015967/017/el/0/1681/1683",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant is located within a conserved region of the DNA binding domain (codons 107-174 and 201-280) of HNF1A, which is defined as critical for the protein’s function by the ClinGen MDEP (PM1_Supporting). ",
                        "contributionDate": {
                          "date": "2026/1/28",
                          "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": "CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1681/1683",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/1/1682",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1681",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/el/0/1699",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA386965901/MONDO:0015967/017/ei/1/1700",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/28",
                  "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/CA386965901/MONDO:0015967/017/el/0/1699/1701",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant was identified in four unrelated individuals with non-autoimmune and non-absolute/near-absolute insulin-deficient diabetes (PS4_Moderate; PMID: 16249556, 23771925, internal lab contributors).",
                        "contributionDate": {
                          "date": "2026/1/28",
                          "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": "CA386965901/MONDO:0015967/017/ci/CA386965901/MONDO:0015967/017.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1699/1701",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/1/1700",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017/0/1699",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA386965901/MONDO:0015967/017",
    "metadata": {
      "created": "2026-01-28T20:56:14.874Z",
      "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, 28 Jan 2026 20:56:14 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "29080ea6-8328-4407-b6f6-59950e3aec2f",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA386965901",
      "id": "CAR:CA386965901",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000545.8:c.745T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000545.8(HNF1A):c.745T>C (p.Ser249Pro)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-17T21:20:05.940Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}