{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/513f58f9-3ad0-4fcd-97f7-451fc9021e76/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1552193476",
      "label": "ClinGen X-linked Inherited Retinal Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPGR Version 1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100437",
      "id": "MONDO:0100437",
      "label": "RPGR-related retinopathy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/el/0/1753",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/ei/1/1754",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/9/26",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0019",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0019",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/el/0/1753/1755",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412743026/MONDO:0100437/106/ci/CA412743026/MONDO:0100437/106.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.958, which is above the ClinGen X-linked IRD VCEP threshold of >0.932 and predicts a damaging effect on RPGR function (PP3_strong). \nThe computational splicing predictor SpliceAI gives a delta score of 0.02 for acceptor gain, which is below the ClinGen X-linked IRD VCEP threshold of >0.2 and does not predict that the variant disrupts RPGR splicing.",
                        "contributionDate": {
                          "date": "2026/9/26",
                          "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": "CA412743026/MONDO:0100437/106/ci/CA412743026/MONDO:0100437/106.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/0/1753/1755",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/1/1754",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/0/1753",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/el/0/1678",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/ei/1/1679",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/9/26",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0060",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0060",
              "label": "PP1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/el/0/1678/1680",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412743026/MONDO:0100437/106/ci/CA412743026/MONDO:0100437/106.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
                        "comments": "The variant has been reported to segregate with retinal dystrophy through an affected mother and son. (PP1; PMID: 31652454).",
                        "contributionDate": {
                          "date": "2026/9/26",
                          "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": "CA412743026/MONDO:0100437/106/ci/CA412743026/MONDO:0100437/106.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/0/1678/1680",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/1/1679",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/0/1678",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/9/26",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0063",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0063",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412743026/MONDO:0100437/106/ci/CA412743026/MONDO:0100437/106.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
                        "comments": "At least one proband harboring this variant exhibits a phenotype including X-linked inheritance (2) NGS sequencing (2), and pigmentary retinopathy (0.5), which together are specific for RPGR-related recessive retinopathy (4.5 points, PMID: 31652454). ",
                        "contributionDate": {
                          "date": "2026/9/26",
                          "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": "CA412743026/MONDO:0100437/106/ci/CA412743026/MONDO:0100437/106.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/0/1633",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/9/26",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0030",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412743026/MONDO:0100437/106/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412743026/MONDO:0100437/106/ci/CA412743026/MONDO:0100437/106.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from hemizygous individuals in gnomAD v4.1.0 (PM2_Supporting)",
                        "contributionDate": {
                          "date": "2026/9/26",
                          "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": "CA412743026/MONDO:0100437/106/ci/CA412743026/MONDO:0100437/106.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA412743026/MONDO:0100437/106",
    "metadata": {
      "created": "2026-10-15T19:06:38.013Z",
      "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, 15 Oct 2026 19:06:37 -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": "513f58f9-3ad0-4fcd-97f7-451fc9021e76",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA412743026",
      "id": "CAR:CA412743026",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001034853.2:c.644G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001034853.2:c.644G>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-01T21:16:27.455Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}