{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/32be167c-3e1a-48c3-be55-dd57fdcb506a/doc/sepio/version/1.2.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637582",
      "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": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401369921/MONDO:0009290/010/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401369921/MONDO:0009290/010/ei/1/1595",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                  "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/9",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401369921/MONDO:0009290/010/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA401369921/MONDO:0009290/010/ci/CA401369921/MONDO:0009290/010.002",
                    "contribution": [
                      {
                        "agent": {
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                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "The NM_000152.5:c.1941C>A (p.Cys647Ter) variant in GAA is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 14 out of a total of 20 exons, leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1).",
                        "contributionDate": {
                          "date": "2026/4/9",
                          "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"
                      }
                    ],
                    "id": "CA401369921/MONDO:0009290/010/ci/CA401369921/MONDO:0009290/010.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA401369921/MONDO:0009290/010/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA401369921/MONDO:0009290/010/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA401369921/MONDO:0009290/010/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401369921/MONDO:0009290/010/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401369921/MONDO:0009290/010/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                  "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/9",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA401369921/MONDO:0009290/010/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA401369921/MONDO:0009290/010/ci/CA401369921/MONDO:0009290/010.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "The highest population minor allele frequency in gnomAD v4.1.0. is 0.000001697 (2/1178844 alleles) in the European non-Finnish population, which is lower than the ClinGen Lysosomal Diseases VCEP’s threshold for PM2_Supporting (<0.001), meeting this criterion (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2026/4/9",
                          "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"
                      }
                    ],
                    "id": "CA401369921/MONDO:0009290/010/ci/CA401369921/MONDO:0009290/010.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA401369921/MONDO:0009290/010/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA401369921/MONDO:0009290/010/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA401369921/MONDO:0009290/010/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA401369921/MONDO:0009290/010",
    "metadata": {
      "created": "2026-04-09T15:47:01.293Z",
      "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 Apr 2026 15:46:38 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.2.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "32be167c-3e1a-48c3-be55-dd57fdcb506a",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA401369921",
      "id": "CAR:CA401369921",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000152.5:c.1941C>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-29T01:02:00.583Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}