{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/829f6351-dde1-4445-aea1-3ac257c43a87/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/485570930",
      "label": "ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CEP290 Version 1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100451",
      "id": "MONDO:0100451",
      "label": "CEP290-related ciliopathy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6712524/MONDO:0100451/226/el/0/1702",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6712524/MONDO:0100451/226/ei/1/1703",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50082_EP170326324571166",
                  "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/20",
                  "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/CA6712524/MONDO:0100451/226/el/0/1702/1704",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6712524/MONDO:0100451/226/ci/CA6712524/MONDO:0100451/226.002",
                    "contribution": [
                      {
                        "agent": {
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                          "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                          "type": "Agent"
                        },
                        "comments": "This variant has been found in the homozygous state in 30 adult individuals in gnomAD which exceeds the LCA/eoRD VCEP threshold of ≥6 (gnomAD version 4.1.1; BS2)\n",
                        "contributionDate": {
                          "date": "2026/7/20",
                          "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": "CA6712524/MONDO:0100451/226/ci/CA6712524/MONDO:0100451/226.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/0/1702/1704",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/1/1703",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/0/1702",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6712524/MONDO:0100451/226/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6712524/MONDO:0100451/226/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50082_EP170326324571166",
                  "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/20",
                  "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/CA6712524/MONDO:0100451/226/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6712524/MONDO:0100451/226/ci/CA6712524/MONDO:0100451/226.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50082_EP170326324571166",
                          "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor CADD gives a PHRED score of 22.5, which is above the ClinGen LCA/eoRD VCEP threshold of <17.3 and does not predict a non-damaging effect on CEP290 protein function, so BP4 is not met. The splicing impact predictor SpliceAI gives a delta score of 0.09 for donor gain, which is below the ClinGen LCA/eoRD VCEP recommended threshold of <0.1 and does not predict an impact on splicing.",
                        "contributionDate": {
                          "date": "2026/7/20",
                          "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": "CA6712524/MONDO:0100451/226/ci/CA6712524/MONDO:0100451/226.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6712524/MONDO:0100451/226/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6712524/MONDO:0100451/226/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50082_EP170326324571166",
                  "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/20",
                  "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/CA6712524/MONDO:0100451/226/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6712524/MONDO:0100451/226/ci/CA6712524/MONDO:0100451/226.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50082_EP170326324571166",
                          "id": "CG-PCER-AGENT:CG_50082_EP170326324571166",
                          "type": "Agent"
                        },
                        "comments": "This variant is present in gnomAD v4.1.1 at a GrpMax allele frequency of 0.01772, with 1,655 alleles / 1,612,938 total alleles in the African/African-American population, which is higher than the ClinGen LCA/eoRD VCEP BA1 threshold of >0.016 (BA1).",
                        "contributionDate": {
                          "date": "2026/7/20",
                          "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": "CA6712524/MONDO:0100451/226/ci/CA6712524/MONDO:0100451/226.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA6712524/MONDO:0100451/226",
    "metadata": {
      "created": "2026-07-20T19:02:20.910Z",
      "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, 20 Jul 2026 19:02:20 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6675-8",
      "id": "LN:LA6675-8",
      "label": "Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "829f6351-dde1-4445-aea1-3ac257c43a87",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA6712524",
      "id": "CAR:CA6712524",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_025114.4:c.1558T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T02:08:57.403Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}