{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/e8bcd8b4-302a-4fb6-91e3-c28f30a1d6a5/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1795775085",
      "label": "ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100150",
      "id": "MONDO:0100150",
      "label": "RYR1-related myopathy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405696104/MONDO:0100150/179/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405696104/MONDO:0100150/179/ei/1/1595",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653",
                  "id": "CG-PCER-AGENT:CG_50031_EP172779037880653",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/10/1",
                  "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/CA405696104/MONDO:0100150/179/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA405696104/MONDO:0100150/179/ci/CA405696104/MONDO:0100150/179.002",
                    "contribution": [
                      {
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                          "id": "CG-PCER-AGENT:CG_50031_EP172779037880653",
                          "type": "Agent"
                        },
                        "comments": "The NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter) variant in RYR1 is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 67/106 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1).",
                        "contributionDate": {
                          "date": "2024/10/1",
                          "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": "CA405696104/MONDO:0100150/179/ci/CA405696104/MONDO:0100150/179.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA405696104/MONDO:0100150/179/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA405696104/MONDO:0100150/179/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA405696104/MONDO:0100150/179/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405696104/MONDO:0100150/179/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA405696104/MONDO:0100150/179/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653",
                  "id": "CG-PCER-AGENT:CG_50031_EP172779037880653",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2024/10/1",
                  "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/CA405696104/MONDO:0100150/179/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA405696104/MONDO:0100150/179/ci/CA405696104/MONDO:0100150/179.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653",
                          "id": "CG-PCER-AGENT:CG_50031_EP172779037880653",
                          "type": "Agent"
                        },
                        "comments": " The highest population minor allele frequency in gnomAD v4.1.0 is 0.000004243 (5/1178340 alleles) in European (non-Finnish) population, which is lower than the ClinGen Congenital Myopathies VCEP threshold (≤0.00000697) for PM2_Supporting, meeting this criterion (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2024/10/1",
                          "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": "CA405696104/MONDO:0100150/179/ci/CA405696104/MONDO:0100150/179.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA405696104/MONDO:0100150/179/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA405696104/MONDO:0100150/179/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA405696104/MONDO:0100150/179/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA405696104/MONDO:0100150/179",
    "metadata": {
      "created": "2024-10-01T20:07:14.976Z",
      "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": "Tue, 01 Oct 2024 20:07:14 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "e8bcd8b4-302a-4fb6-91e3-c28f30a1d6a5",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA405696104",
      "id": "CAR:CA405696104",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000540.3:c.10171G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-02T12:06:55.401Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}