{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/db310fc0-57b0-4838-b622-cd792402c696/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/CA10602781/MONDO:0800406/164/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/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": "2025/12/22",
                  "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/CA10602781/MONDO:0800406/164/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10602781/MONDO:0800406/164/ci/CA10602781/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.3G>T (p.Met1Ile) 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).\n",
                        "contributionDate": {
                          "date": "2025/12/22",
                          "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": "CA10602781/MONDO:0800406/164/ci/CA10602781/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/MONDO:0800406/164/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/MONDO:0800406/164/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                  "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/12/22",
                  "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/CA10602781/MONDO:0800406/164/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10602781/MONDO:0800406/164/ci/CA10602781/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": "This variant has been reported in the literature in an individual with ABCA4-related retinopathy, but they do not meet the PP4 criteria specified by the ABCA4 VCEP (PMID: 37648803).",
                        "contributionDate": {
                          "date": "2025/12/22",
                          "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": "CA10602781/MONDO:0800406/164/ci/CA10602781/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1633",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/MONDO:0800406/164/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/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": "2025/12/22",
                  "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/CA10602781/MONDO:0800406/164/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10602781/MONDO:0800406/164/ci/CA10602781/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": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2025/12/22",
                          "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": "CA10602781/MONDO:0800406/164/ci/CA10602781/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/MONDO:0800406/164/el/0/1735",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/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": "2025/12/22",
                  "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/CA10602781/MONDO:0800406/164/el/0/1735/1737",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10602781/MONDO:0800406/164/ci/CA10602781/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 not significantly increased compared with the prevalence in controls. The OR is infinity and the CI is 0.31-infinity, however the CI does contain 1 so this code is not applicable.",
                        "contributionDate": {
                          "date": "2025/12/22",
                          "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": "CA10602781/MONDO:0800406/164/ci/CA10602781/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1735",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/MONDO:0800406/164/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/MONDO:0800406/164/ei/1/1718",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                  "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/12/22",
                  "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/CA10602781/MONDO:0800406/164/el/0/1717/1719",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10602781/MONDO:0800406/164/ci/CA10602781/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": "This variant was seen in compound heterozygosity with c.6383A>G (p.His2128Arg), but the other variant will not be scored as PM3 for the current variant in order to avoid circular logic.",
                        "contributionDate": {
                          "date": "2025/12/22",
                          "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": "CA10602781/MONDO:0800406/164/ci/CA10602781/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/1/1718",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1717",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/MONDO:0800406/164/el/0/1780",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10602781/MONDO:0800406/164/ei/1/1781",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50140_EP176315447905952",
                  "id": "CG-PCER-AGENT:CG_50140_EP176315447905952",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/12/22",
                  "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/CA10602781/MONDO:0800406/164/el/0/1780/1782",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10602781/MONDO:0800406/164/ci/CA10602781/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": "Another missense variant, c.1A>G (p.Met1Val), ClinVar Variation ID: 99110, in the same codon has been classified as pathogenic for ABCA4-related retinopathy by the ClinGen ABCA4 VCEP, and Splice AI revealed no expected effects on splicing (PM5). ",
                        "contributionDate": {
                          "date": "2025/12/22",
                          "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": "CA10602781/MONDO:0800406/164/ci/CA10602781/MONDO:0800406/164.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164/0/1780",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10602781/MONDO:0800406/164",
    "metadata": {
      "created": "2025-12-22T23:19:59.340Z",
      "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": "Mon, 22 Dec 2025 23:19:59 -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": "db310fc0-57b0-4838-b622-cd792402c696",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10602781",
      "id": "CAR:CA10602781",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000350.3:c.3G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000350.3(ABCA4):c.3G>T (p.Met1Ile)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-14T02:05:38.422Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}