{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/e60ab412-2e39-4495-b15b-87b8eb896679/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/CA326989717/MONDO:0100039/034/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA326989717/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": "2025/6/30",
                  "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/CA326989717/MONDO:0100039/034/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA326989717/MONDO:0100039/034/ci/CA326989717/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 0.276 of p.Val732Met, which is below the threshold of 0.29. The splice site predictor, SpliceAI, indicated that the variant has no impact on splicing. Based on this evidence, p.Val732Met does not predict a damaging effect on CDKL5 function (BP4).",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA326989717/MONDO:0100039/034/ci/CA326989717/MONDO:0100039/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA326989717/MONDO:0100039/034/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA326989717/MONDO:0100039/034/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA326989717/MONDO:0100039/034/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA326989717/MONDO:0100039/034/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA326989717/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": "2025/6/30",
                  "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/CA326989717/MONDO:0100039/034/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA326989717/MONDO:0100039/034/ci/CA326989717/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.Val732Met variant in CDKL5 in gnomAD v4.1 is 0.00002163 in the \"remaining\" population (not sufficient to meet BS1 criteria).",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA326989717/MONDO:0100039/034/ci/CA326989717/MONDO:0100039/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA326989717/MONDO:0100039/034/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA326989717/MONDO:0100039/034/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA326989717/MONDO:0100039/034/0/1804",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA326989717/MONDO:0100039/034",
    "metadata": {
      "created": "2025-06-30T17:11:59.962Z",
      "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, 30 Jun 2025 17:11:59 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "e60ab412-2e39-4495-b15b-87b8eb896679",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA326989717",
      "id": "CAR:CA326989717",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001323289.2:c.2194G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T02:51:25.059Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}