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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"
    },
    "evidenceLine": [
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/el/0/1609",
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                  "label": "curator role",
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                "type": "Contribution"
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            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0027",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0027",
              "label": "PM3",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/el/0/1609/1611",
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                        "comments": "One patient is compound heterozygous for the variant and a variant that has been classified by the ClinGen Lysosomal Diseases Variant Curation Expert Panel (LD VCEP) as pathogenic, c.2560C>T(p.Arg854Ter). The phase is unknown (clinical diagnostic laboratory). Another patient is compound heterozygous for the variant and c.1904A>C (p.Asp635Thr). The allelic data from this patient will be used in the classification of p.Asp635Thr and is not included here to avoid circular logic. Total 0.5 points (PM3_Supporting).",
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/0/1609/1611",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/1/1610",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/0/1609",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/el/0/1636",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/ei/1/1637",
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                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0030",
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/el/0/1636/1638",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA401325061/MONDO:0009290/010/ci/CA401325061/MONDO:0009290/010.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent in gnomAD v2.1.1.",
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                          "date": "2023/9/5",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA401325061/MONDO:0009290/010/ci/CA401325061/MONDO:0009290/010.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/ei/1/1595",
            "contribution": [
              {
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                },
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                  "date": "2023/9/5",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0017",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000220",
                "id": "SEPIO:0000220",
                "label": "Pathogenic Very Strong"
              },
              "id": "0017",
              "label": "PVS1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/el/0/1594/1596",
                "evidenceItem": [
                  {
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                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
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                ],
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                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/0/1594",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/el/0/1831",
        "evidenceItem": [
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            "contribution": [
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                  "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
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                },
                "contributionDate": {
                  "date": "2023/9/5",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0018",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0018",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401325061/MONDO:0009290/010/el/0/1831/1833",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "Two patients have been identified with GAA activity in the deficient range; one of these patients has no detectectable GAA protein on Western blot of skin fibroblasts i.e. CRIM-negative (clinical diagnostic laboratory) (PP4_Moderate).",
                        "contributionDate": {
                          "date": "2023/9/5",
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA401325061/MONDO:0009290/010/ci/CA401325061/MONDO:0009290/010.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010/0/1831",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA401325061/MONDO:0009290/010",
    "metadata": {
      "created": "2024-09-28T02:49:33.639Z",
      "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": "Sat, 28 Sep 2024 02:49:33 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "9f7236b9-e0fe-4a9f-938a-7b069c5034c4",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA401325061",
      "id": "CAR:CA401325061",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000152.5:c.2383G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-30T23:42:55.945Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}