{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/9899ece2-f041-4754-ae5d-c5d883442448/doc/sepio/version/2.1.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/467907148",
      "label": "ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100283",
      "id": "MONDO:0100283",
      "label": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/el/0/1837",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/ei/1/1838",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                  "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA338402061/MONDO:0100283/018/el/0/1837/1839",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                          "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                          "type": "Agent"
                        },
                        "comments": " MTOR is defined by the BM VCEP as a gene that has a low rate of benign missense variation and where pathogenic missense variants are a common mechanism of disease.",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1837/1839",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/1/1838",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1837",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                  "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA338402061/MONDO:0100283/018/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                          "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/el/0/1606",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/ei/1/1607",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                  "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA338402061/MONDO:0100283/018/el/0/1606/1608",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                          "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                          "type": "Agent"
                        },
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1606/1608",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/1/1607",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1606",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/el/0/1681",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/ei/1/1682",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                  "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA338402061/MONDO:0100283/018/el/0/1681/1683",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                          "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                          "type": "Agent"
                        },
                        "comments": "This variant resides within the focal adhesion kinase targeting domain of MTOR that is defined as a critical functional domain by the ClinGen BM VCEP",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1681/1683",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/1/1682",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1681",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/el/0/1705",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA338402061/MONDO:0100283/018/ei/1/1706",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                  "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA338402061/MONDO:0100283/018/el/0/1705/1707",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50020_EP16342163677673",
                          "id": "CG-PCER-AGENT:CG_50020_EP16342163677673",
                          "type": "Agent"
                        },
                        "comments": "In one patient, the variant was present at an alternate allele frequency of 44% in the brain but was not detectable in blood",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA338402061/MONDO:0100283/018/ci/CA338402061/MONDO:0100283/018.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1705/1707",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/1/1706",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018/0/1705",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA338402061/MONDO:0100283/018",
    "metadata": {
      "created": "2025-06-30T18:29:41.906Z",
      "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, 30 Jun 2025 18:29:39 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "9899ece2-f041-4754-ae5d-c5d883442448",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA338402061",
      "id": "CAR:CA338402061",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_004958.4:c.5005G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-25T19:07:17.740Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}