{
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      "label": "ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.3.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.3.0"
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    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100216",
      "id": "MONDO:0100216",
      "label": "DICER1-related tumor predisposition",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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            ],
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            "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/1/1616",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/0/1615",
        "type": "EvidenceLine"
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390864678/MONDO:0100216/024/el/0/1780",
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            "contribution": [
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                  "label": "curator role",
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                "type": "Contribution"
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            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390864678/MONDO:0100216/024/el/0/1780/1782",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50050_EP165729564243098",
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                        "comments": "Five different missense variants, c.5429A>T (p.Asp1810Val), c.5429A>G (p.Asp1810Gly), c.5428G>T (p.Asp1810Tyr), c.5428G>A (p.Asp1810Asn), in the same codon have been reported (ClinVar Variation ID: 933086, 933085, 933084, 933082, 933083). However, per VCEP specifications PM5 cannot be used as PM1 is used for this variant. ",
                        "contributionDate": {
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                          "description": "Date on which this evidence was provided"
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                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA390864678/MONDO:0100216/024/ci/CA390864678/MONDO:0100216/024.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/0/1780/1782",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/0/1780",
        "type": "EvidenceLine"
      },
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            "contribution": [
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                  "date": "2025/6/5",
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                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
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            ],
            "evidenceLine": [
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                        "comments": "In vitro cleavage assay carried out using immunopurified DICER1 variant showed that this variant reduces the capacity of the protein to produce 5p and 3p microRNAs from a pre-miRNA, indicating that this variant impacts protein function(PS3_Supporting; Wu 2018, McGill University).",
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
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        },
        "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/0/1696",
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                  "label": "curator role",
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                "type": "Contribution"
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            "evidenceLine": [
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                          "type": "Agent"
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                        "comments": "In silico tools predict damaging impact of the variant on protein function (REVEL: 0.928) (PP3).",
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                          "date": "2025/6/5",
                          "description": "Date on which this evidence was provided"
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                    "id": "CA390864678/MONDO:0100216/024/ci/CA390864678/MONDO:0100216/024.002",
                    "type": "InfFromBkgrndSciKnow"
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                "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/0/1747/1749",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
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        "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/0/1747",
        "type": "EvidenceLine"
      },
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        "evidenceItem": [
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            "contribution": [
              {
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                  "id": "CG-PCER-AGENT:CG_50050_EP165729564243098",
                  "type": "Agent"
                },
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                  "date": "2025/6/5",
                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
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                "type": "Contribution"
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            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA390864678/MONDO:0100216/024/el/0/1636/1638",
                "evidenceItem": [
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                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting).",
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                          "date": "2025/6/5",
                          "description": "Date on which this evidence was provided"
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                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/0/1636/1638",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA390864678/MONDO:0100216/024",
    "metadata": {
      "created": "2025-06-05T14:10:45.424Z",
      "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": "Thu, 05 Jun 2025 14:10:45 -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": "aecf4bc2-f2d1-40e3-9e99-914d56a1972f",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA390864678",
      "id": "CAR:CA390864678",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_177438.3:c.5428G>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_177438.3(DICER1):c.5428G>C (p.Asp1810His)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-06-15T02:18:46.554Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}