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      "type": "VariantPathogenicityInterpretationGuideline",
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      "id": "MONDO:0015152",
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                        "comments": "The NM_003494.4: c.331C>T p.(Gln111Ter) variant in DYSF, which is also known as NM_001130987.2: c.334C>T p.(Gln112Ter), is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon 4/55, leading to nonsense mediated decay in a gene in which loss of function is an established disease mechanism (PVS1).",
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        "id": "CG-PCER-VARINT:CA10588346/MONDO:0015152/180/0/1831",
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        ],
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        },
        "id": "CG-PCER-VARINT:CA10588346/MONDO:0015152/180/0/1630",
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    "id": "CG-PCER-VARINT:CA10588346/MONDO:0015152/180",
    "metadata": {
      "created": "2025-08-14T03:05:15.918Z",
      "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, 14 Aug 2025 03:05:15 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
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      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
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    "variant": {
      "@id": "https://reg.genome.network/allele/CA10588346",
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        {
          "alleleName": [
            {
              "name": "NM_001130987.2:c.334C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T22:19:04.045Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}