{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/cb234f5a-6fdd-43cb-aba6-2a8746cda859/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529725529",
      "label": "ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.2.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.2.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0001586",
      "id": "MONDO:0001586",
      "label": "mucopolysaccharidosis type 1",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA355961522/MONDO:0001586/091/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA355961522/MONDO:0001586/091/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": "2026/5/15",
                  "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/CA355961522/MONDO:0001586/091/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA355961522/MONDO:0001586/091/ci/CA355961522/MONDO:0001586/091.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent in gnomAD v4.0. (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2026/5/15",
                          "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": "CA355961522/MONDO:0001586/091/ci/CA355961522/MONDO:0001586/091.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA355961522/MONDO:0001586/091/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA355961522/MONDO:0001586/091/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA355961522/MONDO:0001586/091/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA355961522/MONDO:0001586/091/el/0/1762",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA355961522/MONDO:0001586/091/ei/1/1763",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                  "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/5/15",
                  "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/CA355961522/MONDO:0001586/091/el/0/1762/1764",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA355961522/MONDO:0001586/091/ci/CA355961522/MONDO:0001586/091.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "The NM_000203.5:c.456G>A p.(Trp152Ter) variant in IDUA is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 4 out of 14, leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1).",
                        "contributionDate": {
                          "date": "2026/5/15",
                          "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": "CA355961522/MONDO:0001586/091/ci/CA355961522/MONDO:0001586/091.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA355961522/MONDO:0001586/091/0/1762/1764",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA355961522/MONDO:0001586/091/1/1763",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA355961522/MONDO:0001586/091/0/1762",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA355961522/MONDO:0001586/091",
    "metadata": {
      "created": "2026-05-15T14:03:51.290Z",
      "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": "Fri, 15 May 2026 14:03:51 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "cb234f5a-6fdd-43cb-aba6-2a8746cda859",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA355961522",
      "id": "CAR:CA355961522",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001363576.1:c.60G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001363576.1:c.60G>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-29T21:42:36.128Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}