{
  "data": {
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    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1812056141",
      "label": "ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CAPN3 Version 2.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0015152",
      "id": "MONDO:0015152",
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA7510881/MONDO:0015152/187/el/0/1633",
        "evidenceItem": [
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            "contribution": [
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                },
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA7510881/MONDO:0015152/187/el/0/1633/1635",
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                          "date": "2026/4/9",
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                        },
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA7510881/MONDO:0015152/187/ci/CA7510881/MONDO:0015152/187.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/0/1633",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA7510881/MONDO:0015152/187/el/0/1798",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA7510881/MONDO:0015152/187/ei/1/1799",
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/9",
                  "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/CA7510881/MONDO:0015152/187/el/0/1798/1800",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                          "type": "Agent"
                        },
                        "comments": "The highest frequency of this variant in gnomAD v4.1.0 is 0.0002135 in the African/African American population (16/74948 alleles), which is greater than the LGMD VCEP threshold of 0.0001 (PM2_Supporting not met). ",
                        "contributionDate": {
                          "date": "2026/4/9",
                          "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"
                      }
                    ],
                    "id": "CA7510881/MONDO:0015152/187/ci/CA7510881/MONDO:0015152/187.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA7510881/MONDO:0015152/187/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA7510881/MONDO:0015152/187/ei/1/1595",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/9",
                  "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/CA7510881/MONDO:0015152/187/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA7510881/MONDO:0015152/187/ci/CA7510881/MONDO:0015152/187.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                          "type": "Agent"
                        },
                        "comments": "The NM_000070.3: c.258dup p.(Leu87SerfsTer4) variant in CAPN3 is a frameshift variant expected to cause a premature stop codon in biologically relevant exon 1/24, leading to nonsense-mediated decay in a gene in which loss of function is an established disease mechanism (PVS1). ",
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                          "date": "2026/4/9",
                          "description": "Date on which this evidence was provided"
                        },
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                          "@id": "https://obofoundry.org/sepio/0000156",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA7510881/MONDO:0015152/187/ci/CA7510881/MONDO:0015152/187.002",
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                  }
                ],
                "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/0/1594",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA7510881/MONDO:0015152/187/el/0/1717",
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                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/9",
                  "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/CA7510881/MONDO:0015152/187/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA7510881/MONDO:0015152/187/ci/CA7510881/MONDO:0015152/187.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                          "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                          "type": "Agent"
                        },
                        "comments": "This variant has been identified in a homozygous state in at least three individuals with a clinical diagnosis or suspicion of LGMD without reported familial consanguinity (1.0 pt; PMID: 16650086, 30564623; LOVD CAPN3_000380) (PM3, PP4). ",
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                          "date": "2026/4/9",
                          "description": "Date on which this evidence was provided"
                        },
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                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA7510881/MONDO:0015152/187/ci/CA7510881/MONDO:0015152/187.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187/0/1717",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA7510881/MONDO:0015152/187",
    "metadata": {
      "created": "2026-04-09T22:51:31.806Z",
      "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": "Thu, 09 Apr 2026 22:49:51 -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": "792ead27-5e82-4a70-8702-a85323b5b211",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA7510881",
      "id": "CAR:CA7510881",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000070.3:c.258dup"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000070.3(CAPN3):c.258dup (p.Leu87fs)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T00:01:52.793Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}