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      "label": "ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2",
      "type": "VariantPathogenicityInterpretationGuideline",
      "url": "https://clinicalgenome.org/docs/clingen-lysosomal-storage-disorders-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-2/",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009290",
      "id": "MONDO:0009290",
      "label": "glycogen storage disease II",
      "type": "GeneticCondition"
    },
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            ],
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                    ],
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            ],
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            ],
            "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/1/1781",
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              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
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        "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/0/1780",
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        "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/0/1831",
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            "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/1/1748",
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        ],
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        "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/0/1747",
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                  "label": "curator role",
                  "type": "ContributoryRole"
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                "type": "Contribution"
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            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA501005/MONDO:0009290/010/el/0/1636/1638",
                "evidenceItem": [
                  {
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            ],
            "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/1/1637",
            "statementOutcome": {
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                        "comments": "Expression of the variant in COS-7 cells resulted in 0.8% wild type GAA activity and evidence of abnormal GAA synthesis and processing, leading the variant to be described as Class B (“potentially less severe”), indicating that this variant may impact protein function (PMID 22644586)(PS3_Moderate).\n",
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                      }
                    ],
                    "id": "CA501005/MONDO:0009290/010/ci/CA501005/MONDO:0009290/010.002",
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                ],
                "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/0/1825/1827",
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            ],
            "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/1/1826",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
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            "type": "CriterionAssessment"
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010/0/1825",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA501005/MONDO:0009290/010",
    "metadata": {
      "created": "2025-07-30T20:56:13.408Z",
      "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": "Wed, 30 Jul 2025 20:56:13 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "bd812e5a-6029-409c-83d1-c4b17227ac7c",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA501005",
      "id": "CAR:CA501005",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000152.5:c.1003G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-05T04:27:32.066Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}