{
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      "type": "VariantPathogenicityInterpretationGuideline",
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      "label": "limb-girdle muscular dystrophy",
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            ],
            "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/1/1829",
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        ],
        "evidenceStrength": {
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                        "comments": "Another missense variant at this position, NM_003494.4: c.2372C>G p.(Pro791Arg), has been classified as likely pathogenic for limb girdle muscular dystrophy by the LGMD VCEP (PM5_Supporting). \n\nPP3 applies to both variants\nneither variant is predicted to affect splicing\ndo not affect first or last amino acid of an exon\n\nc.2372C>A p.(Pro791Gln)\nnot in LOVD, not in Dysferlin Registry, LP by Labcorp Genetics (formerly Invitae), Labcorp in ClinVar but no literature citations (looks to be based on PM5 for c.2372C>G p.(Pro791Arg)",
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/0/1774/1776",
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            ],
            "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/1/1775",
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        "evidenceStrength": {
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        },
        "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/0/1774",
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                },
                "type": "Contribution"
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            ],
            "evidenceLine": [
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                        "comments": "The computational predictor REVEL gives a score of 0.86, which exceeds the threshold of ≥0.70, evidence that correlates with impact to DYSF function.",
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                ],
                "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/0/1633/1635",
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            ],
            "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/1/1634",
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              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
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        },
        "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/0/1633",
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                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA49742304/MONDO:0016971/180/el/0/1636/1638",
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                          "type": "Agent"
                        },
                        "comments": "The upper bound of the 95% confidence interval of the Grpmax variant allele frequency in gnomAD v4.1.0 is 0.000014 (10/1180030 European (non-Finnish) chromosomes), which is less than the LGMD VCEP threshold (0.0001), meeting this criterion (PM2_Supporting).",
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/0/1636/1638",
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            ],
            "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/1/1637",
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        ],
        "evidenceStrength": {
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        },
        "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/0/1636",
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                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "evidenceLine": [
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                    "contribution": [
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                          "type": "Agent"
                        },
                        "comments": "To our knowledge, this variant has not been reported in association with limb girdle muscular dystrophy. \n\nnot in LOVD\nno literature identified\nnot in Dysferlin Registry",
                        "contributionDate": {
                          "date": "2026/5/7",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA49742304/MONDO:0016971/180/ci/CA49742304/MONDO:0016971/180.002",
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                  }
                ],
                "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180/0/1717",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA49742304/MONDO:0016971/180",
    "metadata": {
      "created": "2026-05-07T15:09:20.574Z",
      "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, 07 May 2026 15:09:20 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "f3a996a4-fbe5-4ea1-afbf-d481d523ba99",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA49742304",
      "id": "CAR:CA49742304",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.2426C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.2426C>T (p.Pro809Leu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T04:54:39.306Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}