{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/cb5510b0-4ce3-421c-9eda-b36752839e3a/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 5.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "5.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010726",
      "id": "MONDO:0010726",
      "label": "Rett syndrome",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA270277/MONDO:0010726/034/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA270277/MONDO:0010726/034/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": "2026/6/26",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA270277/MONDO:0010726/034/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA270277/MONDO:0010726/034/ci/CA270277/MONDO:0010726/034.002",
                    "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.Ala447Val variant in MECP2 (NM_004992.4) in gnomAD v4.1 is 0.000030 in Non-Finnish European population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.0000083) for BS1, and therefore meets this criterion (BS1).",
                        "contributionDate": {
                          "date": "2026/6/26",
                          "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": "CA270277/MONDO:0010726/034/ci/CA270277/MONDO:0010726/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA270277/MONDO:0010726/034/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA270277/MONDO:0010726/034/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA270277/MONDO:0010726/034/0/1804",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA270277/MONDO:0010726/034/el/0/1702",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA270277/MONDO:0010726/034/ei/1/1703",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50022_EP161901869799975",
                  "id": "CG-PCER-AGENT:CG_50022_EP161901869799975",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/6/26",
                  "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"
              }
            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA270277/MONDO:0010726/034/el/0/1702/1704",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA270277/MONDO:0010726/034/ci/CA270277/MONDO:0010726/034.002",
                    "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.Ala447Val variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). ",
                        "contributionDate": {
                          "date": "2026/6/26",
                          "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": "CA270277/MONDO:0010726/034/ci/CA270277/MONDO:0010726/034.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA270277/MONDO:0010726/034/0/1702/1704",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA270277/MONDO:0010726/034/1/1703",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA270277/MONDO:0010726/034/0/1702",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA270277/MONDO:0010726/034",
    "metadata": {
      "created": "2026-06-26T20:47:08.683Z",
      "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, 26 Jun 2026 20:47:08 -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": "cb5510b0-4ce3-421c-9eda-b36752839e3a",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA270277",
      "id": "CAR:CA270277",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001110792.2:c.1376C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-03T23:11:31.632Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}