{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/c0c0226a-09fa-41b5-af2b-4ce5b026f17b/doc/sepio/version/2.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637584",
      "label": "ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
    "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/CA405676716/MONDO:0007783/012/el/0/1615",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405676716/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": "2026/6/17",
                  "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/CA405676716/MONDO:0007783/012/el/0/1615/1617",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA405676716/MONDO:0007783/012/ci/CA405676716/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": "2026/6/17",
                          "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": "CA405676716/MONDO:0007783/012/ci/CA405676716/MONDO:0007783/012.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/0/1615/1617",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/1/1616",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/0/1615",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405676716/MONDO:0007783/012/el/0/1699",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405676716/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": "2026/6/17",
                  "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/CA405676716/MONDO:0007783/012/el/0/1699/1701",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA405676716/MONDO:0007783/012/ci/CA405676716/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 individuals with a personal or family history of an MH episode and positive in vitro contracture test (IVCT) or caffeine halothane contracture test (CHCT) results (if the proband was unavailable for testing, a positive diagnostic test result in a mutation-positive relative was counted), PS4_Moderate (PMID:30236257, PMID:41153347). ",
                        "contributionDate": {
                          "date": "2026/6/17",
                          "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": "CA405676716/MONDO:0007783/012/ci/CA405676716/MONDO:0007783/012.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/0/1699/1701",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/1/1700",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/0/1699",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405676716/MONDO:0007783/012/el/0/1690",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405676716/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": "2026/6/17",
                  "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/CA405676716/MONDO:0007783/012/el/0/1690/1692",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA405676716/MONDO:0007783/012/ci/CA405676716/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 (0.9) supports a pathogenic status for this variant, PP3_Moderate. ",
                        "contributionDate": {
                          "date": "2026/6/17",
                          "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": "CA405676716/MONDO:0007783/012/ci/CA405676716/MONDO:0007783/012.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/0/1690/1692",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/1/1691",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012/0/1690",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA405676716/MONDO:0007783/012",
    "metadata": {
      "created": "2026-06-17T21:33:03.810Z",
      "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, 17 Jun 2026 21:33:03 -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": "c0c0226a-09fa-41b5-af2b-4ce5b026f17b",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA405676716",
      "id": "CAR:CA405676716",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000540.2:c.455C>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000540.2(RYR1):c.455C>A (p.Ala152Asp)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-30T21:35:41.932Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}