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    "assertionMethod": {
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      "label": "ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DYSF Version 2.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
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      "id": "MONDO:0015152",
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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            ],
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                    ],
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                "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1609/1611",
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            ],
            "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/1/1610",
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              "@id": "SEPIO:0000224",
              "label": "Met"
            },
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        ],
        "evidenceStrength": {
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        "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1609",
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1706954/MONDO:0015152/180/el/0/1798",
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                        "comments": "The filtering allele frequency for this variant is 0.0001752 in gnomAD v4.1.0 (the upper bound of the 95% confidence interval of 5/60012 Admixed American alleles), which is higher than the VCEP threshold of 0.0001 for PM2_Supporting (criterion not met). ",
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                ],
                "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1798/1800",
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            ],
            "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
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        "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1798",
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                  "label": "curator role",
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            ],
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1706954/MONDO:0015152/180/el/0/1594/1596",
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                        "comments": "The NM_003494.4: c.4228C>T p.(Gln1410Ter) variant in DYSF, which is also known as NM_001130987.2: c.4282C>T (p.Gln1428Ter), is a nonsense variant predicted to introduce a premature stop codon in exon 39/55, leading to nonsense mediated decay in a gene in which loss of function is an established disease mechanism (PVS1). \n",
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                          "date": "2025/10/9",
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                    ],
                    "id": "CA1706954/MONDO:0015152/180/ci/CA1706954/MONDO:0015152/180.002",
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                ],
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              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1594",
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                "type": "Contribution"
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            ],
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA1706954/MONDO:0015152/180/el/0/1678/1680",
                "evidenceItem": [
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                        "comments": "This variant was shown to co-segregate with autosomal recessive LGMD in one affected family member (PMID: 34624274, PP1).",
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                          "date": "2025/10/9",
                          "description": "Date on which this evidence was provided"
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                    ],
                    "id": "CA1706954/MONDO:0015152/180/ci/CA1706954/MONDO:0015152/180.002",
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                ],
                "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1678/1680",
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            ],
            "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/1/1679",
            "statementOutcome": {
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              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1678",
        "type": "EvidenceLine"
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                  "label": "curator role",
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                "type": "Contribution"
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            "evidenceLine": [
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                "evidenceItem": [
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                        },
                        "comments": "At least one patient with this variant and a second presumed diagnostic DYSF allele displayed progressive proximal muscle weakness or had a clinical diagnosis of LGMD (PMID: 35047756, 34624274; PP4). ",
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                ],
                "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1633/1635",
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            ],
            "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
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        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180/0/1633",
        "type": "EvidenceLine"
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    ],
    "id": "CG-PCER-VARINT:CA1706954/MONDO:0015152/180",
    "metadata": {
      "created": "2025-10-09T23:36:32.015Z",
      "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 Oct 2025 23:36:31 -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": "aab3c348-66cf-4f14-b09e-6878ec67455d",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA1706954",
      "id": "CAR:CA1706954",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.4282C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-04T06:26:05.231Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}