{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/36c5a87e-0e4c-45fe-a7b8-8c1788eef672/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243106",
      "label": "ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 4.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "4.1.0"
    },
    "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/CA170157/MONDO:0010726/036/el/0/1702",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA170157/MONDO:0010726/036/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": "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/CA170157/MONDO:0010726/036/el/0/1702/1704",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA170157/MONDO:0010726/036/ci/CA170157/MONDO:0010726/036.002",
                    "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.Arg354Leu variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2).",
                        "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": "CA170157/MONDO:0010726/036/ci/CA170157/MONDO:0010726/036.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA170157/MONDO:0010726/036/0/1702/1704",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA170157/MONDO:0010726/036/1/1703",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA170157/MONDO:0010726/036/0/1702",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA170157/MONDO:0010726/036/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA170157/MONDO:0010726/036/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/CA170157/MONDO:0010726/036/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA170157/MONDO:0010726/036/ci/CA170157/MONDO:0010726/036.002",
                    "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.Arg354Leu variant in MECP2 (NM_004992.4) in gnomAD v4.1 is 0.0001252 in the European (non-Finnish) population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.00008) for BS1, and therefore meets this criterion (BS1).",
                        "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": "CA170157/MONDO:0010726/036/ci/CA170157/MONDO:0010726/036.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA170157/MONDO:0010726/036/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA170157/MONDO:0010726/036/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA170157/MONDO:0010726/036/0/1804",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA170157/MONDO:0010726/036",
    "metadata": {
      "created": "2025-06-30T17:50:55.398Z",
      "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 17:50:54 -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": "36c5a87e-0e4c-45fe-a7b8-8c1788eef672",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA170157",
      "id": "CAR:CA170157",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001110792.2:c.1097G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-10T18:42:13.072Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}