{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://erepo.genome.network/evrepo/api/summary/classification/ba323547-c9a0-4c76-ba58-36ec24d41002/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243104",
      "label": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 4.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "4.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100039",
      "id": "MONDO:0100039",
      "label": "CDKL5 disorder",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/ei/1/1805",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/8/1",
                  "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/CA412361958/MONDO:0100039/034/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "comments": "The highest population minor allele frequency of the p.Thr538Ala variant in CDKL5 in gnomAD v4.1 is 0.000004468 in Non-Finnish European population (not sufficient to meet BS1 criteria).",
                        "contributionDate": {
                          "date": "2025/8/1",
                          "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": "CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1804",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/el/0/1711",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/ei/1/1712",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/8/1",
                  "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/CA412361958/MONDO:0100039/034/el/0/1711/1713",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "comments": "The p.Thr538Ala variant is observed in at least 1 unaffected individual (Internal database - Ambry Genetics).",
                        "contributionDate": {
                          "date": "2025/8/1",
                          "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": "CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1711/1713",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/1/1712",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1711",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/el/0/1798",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/ei/1/1799",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/8/1",
                  "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/CA412361958/MONDO:0100039/034/el/0/1798/1800",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "contributionDate": {
                          "date": "2025/8/1",
                          "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": "CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/8/1",
                  "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/CA412361958/MONDO:0100039/034/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "comments": "Computational prediction analysis tools are inconclusive for this variant.",
                        "contributionDate": {
                          "date": "2025/8/1",
                          "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": "CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1633",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/8/1",
                  "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/CA412361958/MONDO:0100039/034/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.214, which is below the threshold of 0.290, evidence that does not predict a damaging effect on CDKL5 function (BP4).",
                        "contributionDate": {
                          "date": "2025/8/1",
                          "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": "CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/el/0/1735",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA412361958/MONDO:0100039/034/ei/1/1736",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/8/1",
                  "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/CA412361958/MONDO:0100039/034/el/0/1735/1737",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                          "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                          "type": "Agent"
                        },
                        "comments": "PM2 not met.",
                        "contributionDate": {
                          "date": "2025/8/1",
                          "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": "CA412361958/MONDO:0100039/034/ci/CA412361958/MONDO:0100039/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034/0/1735",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA412361958/MONDO:0100039/034",
    "metadata": {
      "created": "2025-08-01T16:51:55.199Z",
      "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, 01 Aug 2025 16:51:55 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26334-5",
      "id": "LN:LA26334-5",
      "label": "Likely Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "ba323547-c9a0-4c76-ba58-36ec24d41002",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA412361958",
      "id": "CAR:CA412361958",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001323289.2:c.1612A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001323289.2(CDKL5):c.1612A>G (p.Thr538Ala)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-04-07T12:57:55.176Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}