{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/34d28fdd-694f-4c62-9cbd-9ad808ec2be4/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 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "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/CA412730005/MONDO:0100437/106/el/0/1636",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412730005/MONDO:0100437/106/ei/1/1637",
            "contribution": [
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/5",
                  "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/CA412730005/MONDO:0100437/106/el/0/1636/1638",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2025/9/5",
                          "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": "CA412730005/MONDO:0100437/106/ci/CA412730005/MONDO:0100437/106.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412730005/MONDO:0100437/106/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412730005/MONDO:0100437/106/ei/1/1595",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50086_EP174775864491222",
                  "id": "CG-PCER-AGENT:CG_50086_EP174775864491222",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/5",
                  "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/CA412730005/MONDO:0100437/106/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412730005/MONDO:0100437/106/ci/CA412730005/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 is a nonsense variant that introduces a premature stop codon between amino acids 1-1132 that is predicted to either trigger nonsense-mediated decay or to disrupt a critical C-terminal region required for proper glutamylation of RPGR (PVS1, PMID: 36445968). ",
                        "contributionDate": {
                          "date": "2025/9/5",
                          "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": "CA412730005/MONDO:0100437/106/ci/CA412730005/MONDO:0100437/106.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412730005/MONDO:0100437/106/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412730005/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": "2025/9/5",
                  "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/CA412730005/MONDO:0100437/106/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412730005/MONDO:0100437/106/ci/CA412730005/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 presentation with night blindness (0.5 pts) with onset at age 4 years (1 pt), reduced visual acuity (0.5 pts), decreased electroretinogram responses from rods, mild macular degeneration, pigment deposits (0.5 pts), and genotyping by next-generation sequencing with a 483-gene panel showing no alternative basis for inherited retinal disease (2 pts), which together are specific for RPGR-related retinopathy (4.5 points, PMID: 36276946, PP4).",
                        "contributionDate": {
                          "date": "2025/9/5",
                          "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": "CA412730005/MONDO:0100437/106/ci/CA412730005/MONDO:0100437/106.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106/0/1633",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA412730005/MONDO:0100437/106",
    "metadata": {
      "created": "2025-09-05T14:44:18.027Z",
      "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, 05 Sep 2025 14:44:17 -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": "34d28fdd-694f-4c62-9cbd-9ad808ec2be4",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA412730005",
      "id": "CAR:CA412730005",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001034853.2:c.2695G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-26T05:34:31.684Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}