{
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      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
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      "id": "MONDO:0015152",
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "type": "GeneticCondition"
    },
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            ],
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              "@id": "SEPIO:0000224",
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            },
            "type": "CriterionAssessment"
          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/0/1609",
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      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10606659/MONDO:0015152/180/el/0/1594",
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                },
                "contributionRole": {
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                  "label": "curator role",
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            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10606659/MONDO:0015152/180/el/0/1594/1596",
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                        "comments": "The NM_003494.4: c.1071del p.(Ser358LeufsTer17) variant in DYSF, which is also known as NM_001130987.2: c.1167del (p.Ser390LeufsTer17), is a frameshift variant predicted to cause a premature stop codon in biologically relevant exon 12/55 leading to nonsense mediated decay in a gene in which loss of function is an established disease mechanism (PVS1).",
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                          "date": "2025/11/11",
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                        "type": "Contribution"
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                    ],
                    "id": "CA10606659/MONDO:0015152/180/ci/CA10606659/MONDO:0015152/180.002",
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                ],
                "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/0/1594",
        "type": "EvidenceLine"
      },
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                },
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                  "description": "Date on which this evidence was provided"
                },
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                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                },
                "type": "Contribution"
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            ],
            "evidenceLine": [
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                        "comments": "This patient displayed progressive muscle weakness and disease range dysferlin expression in blood monocytes, which is highly specific for DYSF-related LGMD (PP4_Strong). ",
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                          "date": "2025/11/11",
                          "description": "Date on which this evidence was provided"
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                    ],
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                "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/0/1738/1740",
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/0/1738",
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                "contributionDate": {
                  "date": "2025/11/11",
                  "description": "Date on which this evidence was provided"
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                  "@id": "https://obofoundry.org/sepio/0000156",
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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/CA10606659/MONDO:0015152/180/el/0/1636/1638",
                "evidenceItem": [
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                          "date": "2025/11/11",
                          "description": "Date on which this evidence was provided"
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10606659/MONDO:0015152/180/ci/CA10606659/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10606659/MONDO:0015152/180",
    "metadata": {
      "created": "2025-11-12T16:11:24.767Z",
      "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, 12 Nov 2025 16:11:24 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "75cd278c-1ee3-46ec-b86d-0516ab57e2ed",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10606659",
      "id": "CAR:CA10606659",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.1167del"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.1167del (p.Ser390fs)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-03T09:56:54.896Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}