{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/d3db3e58-a4b9-4a6b-890c-f977fdf6b7e2/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1670130991",
      "label": "ClinGen ABCA4 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ABCA4 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0800406",
      "id": "MONDO:0800406",
      "label": "ABCA4-related retinopathy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226968/MONDO:0800406/164/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226968/MONDO:0800406/164/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                  "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/12/23",
                  "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/CA226968/MONDO:0800406/164/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA226968/MONDO:0800406/164/ci/CA226968/MONDO:0800406/164.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                          "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                          "type": "Agent"
                        },
                        "comments": "The total minor allele frequency in gnomAD v4.1.0 is 0.000004957 (8/1613996 alleles), which is lower than the ClinGen ABCA4 VCEP’s threshold for PM2_Supporting (<0.0001), meeting this criterion (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2025/12/23",
                          "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": "CA226968/MONDO:0800406/164/ci/CA226968/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226968/MONDO:0800406/164/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226968/MONDO:0800406/164/ei/1/1595",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                  "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/12/23",
                  "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/CA226968/MONDO:0800406/164/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA226968/MONDO:0800406/164/ci/CA226968/MONDO:0800406/164.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                          "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                          "type": "Agent"
                        },
                        "comments": "The NM_000350.3:c.1A>G (p.Met1Val) variant in ABCA4 may cause a truncated or absent protein by altering the start codon of the coding sequence and is predicted to lead to the omission of a critical region of the protein (PVS1).",
                        "contributionDate": {
                          "date": "2025/12/23",
                          "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": "CA226968/MONDO:0800406/164/ci/CA226968/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226968/MONDO:0800406/164/el/0/1735",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA226968/MONDO:0800406/164/ei/1/1736",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                  "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/12/23",
                  "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/CA226968/MONDO:0800406/164/el/0/1735/1737",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA226968/MONDO:0800406/164/ci/CA226968/MONDO:0800406/164.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                          "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                          "type": "Agent"
                        },
                        "comments": "The prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls. The OR is 131.2 and the CI is 19.05-5442.73, which is above the ABCA4 VCEP threshold of >5, where the CI does not contain 1 (PS4; PMID: 35120629). ",
                        "contributionDate": {
                          "date": "2025/12/23",
                          "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": "CA226968/MONDO:0800406/164/ci/CA226968/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164/0/1735",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA226968/MONDO:0800406/164",
    "metadata": {
      "created": "2025-12-23T13:54:27.940Z",
      "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": "Tue, 23 Dec 2025 13:54:27 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "d3db3e58-a4b9-4a6b-890c-f977fdf6b7e2",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA226968",
      "id": "CAR:CA226968",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000350.3:c.1A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000350.3(ABCA4):c.1A>G (p.Met1Val)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T06:07:21.787Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}