{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/9414f879-23b1-4385-b942-ad1d27bcf56b/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1528339111",
      "label": "ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.3.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.3.0"
    },
    "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/CA2580612107/MONDO:0015967/086/el/0/1735",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/ei/1/1736",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/2/23",
                  "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/0053",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0053",
              "label": "PS4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/el/0/1735/1737",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "This variant was identified in 10 unrelated individuals with hyperglycemia (PS4; PMID: 19564454, 31576961, internal lab contributors). ",
                        "contributionDate": {
                          "date": "2024/2/23",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA2580612107/MONDO:0015967/086/ci/CA2580612107/MONDO:0015967/086.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1735",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/el/0/1714",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/ei/1/1715",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/2/23",
                  "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/0059",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0059",
              "label": "PM4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/el/0/1714/1716",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2580612107/MONDO:0015967/086/ci/CA2580612107/MONDO:0015967/086.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                          "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                          "type": "Agent"
                        },
                        "comments": "The c.449_451del variant is predicted to change the length of the protein due to an in-frame deletion of a single amino acid in a non-repeat region (PM4_Supporting). ",
                        "contributionDate": {
                          "date": "2024/2/23",
                          "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": "CA2580612107/MONDO:0015967/086/ci/CA2580612107/MONDO:0015967/086.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1714/1716",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/1/1715",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1714",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/el/0/1630",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/ei/1/1631",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
                  "id": "CG-PCER-AGENT:CG_50016_EP163553328993009",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/2/23",
                  "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/0040",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0040",
              "label": "PP1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/el/0/1630/1632",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2580612107/MONDO:0015967/086/ci/CA2580612107/MONDO:0015967/086.002",
                    "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 segregated with hyperglycemia, with 3 informative meioses in two families (PP1_Moderate, internal lab contributors). ",
                        "contributionDate": {
                          "date": "2024/2/23",
                          "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": "CA2580612107/MONDO:0015967/086/ci/CA2580612107/MONDO:0015967/086.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1630/1632",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/1/1631",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1630",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/el/0/1831",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/ei/1/1832",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50016_EP163553328993009",
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                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/2/23",
                  "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/CA2580612107/MONDO:0015967/086/el/0/1831/1833",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2580612107/MONDO:0015967/086/ci/CA2580612107/MONDO:0015967/086.002",
                    "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 GCK-hyperglycemia (FBG 5.5-8 mmol/L and HbA1c 5.6 - 7.6% and negative antibody) (PP4_Moderate; internal lab contributors).   ",
                        "contributionDate": {
                          "date": "2024/2/23",
                          "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": "CA2580612107/MONDO:0015967/086/ci/CA2580612107/MONDO:0015967/086.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1831",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/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": "2024/2/23",
                  "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/0030",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2580612107/MONDO:0015967/086/el/0/1636/1638",
                "evidenceItem": [
                  {
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                    "contribution": [
                      {
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                          "@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 v2.1.1 (PM2_Supporting).\nAbsent from gnomAD 4.0.",
                        "contributionDate": {
                          "date": "2024/2/23",
                          "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": "CA2580612107/MONDO:0015967/086/ci/CA2580612107/MONDO:0015967/086.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA2580612107/MONDO:0015967/086",
    "metadata": {
      "created": "2024-09-28T04:05:49.352Z",
      "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 04:05:49 -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": "9414f879-23b1-4385-b942-ad1d27bcf56b",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA2580612107",
      "id": "CAR:CA2580612107",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_033508.3:c.446_448del"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_033508.3:c.446_448del"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-29T13:15:35.927Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}