{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/101e9f25-8179-4cdb-b6f7-31db96672a16/doc/sepio/version/1.1.0",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0007783",
      "id": "MONDO:0007783",
      "label": "malignant hyperthermia, susceptibility to, 1",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/el/0/1699",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/ei/1/1700",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50038_EP161901766675837",
                  "id": "CG-PCER-AGENT:CG_50038_EP161901766675837",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/4/6",
                  "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/0057",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0057",
              "label": "PS4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/el/0/1699/1701",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA069115/MONDO:0007783/012/ci/CA069115/MONDO:0007783/012.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50038_EP161901766675837",
                          "id": "CG-PCER-AGENT:CG_50038_EP161901766675837",
                          "type": "Agent"
                        },
                        "comments": "This variant has been reported in two unrelated individuals who have a personal or family history of a malignant hyperthermia reaction, two of these individuals had a positive in vitro contracture test (IVCT) or caffeine halothane contracture test (CHCT) result (if the proband was unavailable for testing, a positive diagnostic test result in a mutation-positive relative was counted), PS4_Moderate (PMID:30236257). ",
                        "contributionDate": {
                          "date": "2023/4/6",
                          "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": "CA069115/MONDO:0007783/012/ci/CA069115/MONDO:0007783/012.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/0/1699/1701",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/1/1700",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/0/1699",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/el/0/1690",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/ei/1/1691",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50038_EP161901766675837",
                  "id": "CG-PCER-AGENT:CG_50038_EP161901766675837",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/4/6",
                  "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/0025",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0025",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/el/0/1690/1692",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA069115/MONDO:0007783/012/ci/CA069115/MONDO:0007783/012.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50038_EP161901766675837",
                          "id": "CG-PCER-AGENT:CG_50038_EP161901766675837",
                          "type": "Agent"
                        },
                        "comments": "A REVEL score >0.85 (0.885)supports a pathogenic status for this variant, PP3_Moderate. ",
                        "contributionDate": {
                          "date": "2023/4/6",
                          "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": "CA069115/MONDO:0007783/012/ci/CA069115/MONDO:0007783/012.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/0/1690/1692",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/1/1691",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/0/1690",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/el/0/1615",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/ei/1/1616",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50038_EP161901766675837",
                  "id": "CG-PCER-AGENT:CG_50038_EP161901766675837",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/4/6",
                  "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/006",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "006",
              "label": "PM1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA069115/MONDO:0007783/012/el/0/1615/1617",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA069115/MONDO:0007783/012/ci/CA069115/MONDO:0007783/012.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50038_EP161901766675837",
                          "id": "CG-PCER-AGENT:CG_50038_EP161901766675837",
                          "type": "Agent"
                        },
                        "comments": "This variant resides in a region of RYR1 considered to be a hotspot for pathogenic variants that contribute to MHS, PM1 (PMID: 21118704). ",
                        "contributionDate": {
                          "date": "2023/4/6",
                          "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": "CA069115/MONDO:0007783/012/ci/CA069115/MONDO:0007783/012.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/0/1615/1617",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/1/1616",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012/0/1615",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA069115/MONDO:0007783/012",
    "metadata": {
      "created": "2024-09-28T01:42:10.236Z",
      "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 01:42:10 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "101e9f25-8179-4cdb-b6f7-31db96672a16",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA069115",
      "id": "CAR:CA069115",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001042723.2:c.7084G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001042723.2:c.7084G>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-04T23:56:21.570Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}