{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/a23be9e8-b9ae-44a9-a377-1c1f9e815b48/doc/sepio/version/1.2.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1807907463",
      "label": "ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DYSF Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "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/CA347220902/MONDO:0015152/180/el/0/1738",
        "evidenceItem": [
          {
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            "contribution": [
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                },
                "contributionDate": {
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                },
                "contributionRole": {
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                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
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                          "type": "Agent"
                        },
                        "comments": "At least one patient with this variant and a second DYSF variant displayed progressive limb girdle muscle weakness and absent dysferlin protein expression, which is highly specific for DYSF-related LGMD (PMID: 36983702; PP4_Strong). \n\nreported phenotype: moderate progressive muscle weakness with mild scapular winging and mild asymmetry predominantly in legs. muscle biopsy showed dystrophic features and inflammation. disease range dysferlin by blood monocyte assay. Absent dysferlin by IHC of muscle biopsy.",
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                          "date": "2025/3/7",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA347220902/MONDO:0015152/180/ci/CA347220902/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1738/1740",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/1/1739",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1738",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220902/MONDO:0015152/180/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220902/MONDO:0015152/180/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/3/7",
                  "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/CA347220902/MONDO:0015152/180/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA347220902/MONDO:0015152/180/ci/CA347220902/MONDO:0015152/180.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                          "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.8, which exceeds the threshold of ≥0.70, evidence that correlates with impact to DYSF function (PP3).",
                        "contributionDate": {
                          "date": "2025/3/7",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA347220902/MONDO:0015152/180/ci/CA347220902/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220902/MONDO:0015152/180/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220902/MONDO:0015152/180/ei/1/1718",
            "contribution": [
              {
                "agent": {
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                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/3/7",
                  "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/CA347220902/MONDO:0015152/180/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA347220902/MONDO:0015152/180/ci/CA347220902/MONDO:0015152/180.002",
                    "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 trans with a pathogenic DYSF variant in an individual with LGMD (c.2643+1G>A, 1.0 pt, PMID: 36983702) (PM3). \n\nConfirmed in trans with complex allele containing c.2643+1G>A (approved and published as P without this observation) and c.4577A>C p.(Lys1526Thr) (approved and published as LB)\n\nNo variants at this location in LOVD, no citations in ClinVar. 1 submission by Invitae/Labcorp as VUS in ClinVar, with no response to query.",
                        "contributionDate": {
                          "date": "2025/3/7",
                          "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": "CA347220902/MONDO:0015152/180/ci/CA347220902/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1717",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220902/MONDO:0015152/180/el/0/1780",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220902/MONDO:0015152/180/ei/1/1781",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50061_EP173626590511418",
                  "id": "CG-PCER-AGENT:CG_50061_EP173626590511418",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/3/7",
                  "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/CA347220902/MONDO:0015152/180/el/0/1780/1782",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA347220902/MONDO:0015152/180/ci/CA347220902/MONDO:0015152/180.002",
                    "contribution": [
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                          "type": "Agent"
                        },
                        "comments": "There are no other variants at this residue in ClinVar. No variants at this genomic position in LOVD.",
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                          "date": "2025/3/7",
                          "description": "Date on which this evidence was provided"
                        },
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA347220902/MONDO:0015152/180/ci/CA347220902/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1780",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220902/MONDO:0015152/180/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA347220902/MONDO:0015152/180/ei/1/1637",
            "contribution": [
              {
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                },
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                },
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                  "label": "curator role",
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                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
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                "evidenceItem": [
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                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting). ",
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                          "description": "Date on which this evidence was provided"
                        },
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA347220902/MONDO:0015152/180/ci/CA347220902/MONDO:0015152/180.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA347220902/MONDO:0015152/180",
    "metadata": {
      "created": "2025-03-07T14:50:19.297Z",
      "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": "Fri, 07 Mar 2025 14:50:19 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.2.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "a23be9e8-b9ae-44a9-a377-1c1f9e815b48",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA347220902",
      "id": "CAR:CA347220902",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.5176T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T23:17:23.734Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}