{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/2381c78a-d14e-425b-993d-f0ef29f0d9e1/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1623526670",
      "label": "ClinGen Leukodystrophy and Leukoencephalopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GFAP Version 1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0008752",
      "id": "MONDO:0008752",
      "label": "Alexander disease",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA217126/MONDO:0008752/157/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA217126/MONDO:0008752/157/ei/1/1655",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50107_EP178699040387416",
                  "id": "CG-PCER-AGENT:CG_50107_EP178699040387416",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/8/18",
                  "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/CA217126/MONDO:0008752/157/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA217126/MONDO:0008752/157/ci/CA217126/MONDO:0008752/157.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50107_EP178699040387416",
                          "id": "CG-PCER-AGENT:CG_50107_EP178699040387416",
                          "type": "Agent"
                        },
                        "comments": "The c.1140C>T (p.Pro380=) variant is a synonymous (silent) variant that is not predicted to impact the splice consensus sequence, nor the creation of a new splice site, and the nucleotide is not highly conserved with a phyloP score of <2.27 (BP7).",
                        "contributionDate": {
                          "date": "2026/8/18",
                          "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": "CA217126/MONDO:0008752/157/ci/CA217126/MONDO:0008752/157.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA217126/MONDO:0008752/157/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA217126/MONDO:0008752/157/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA217126/MONDO:0008752/157/0/1654",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA217126/MONDO:0008752/157/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA217126/MONDO:0008752/157/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50107_EP178699040387416",
                  "id": "CG-PCER-AGENT:CG_50107_EP178699040387416",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/8/18",
                  "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/CA217126/MONDO:0008752/157/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA217126/MONDO:0008752/157/ci/CA217126/MONDO:0008752/157.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50107_EP178699040387416",
                          "id": "CG-PCER-AGENT:CG_50107_EP178699040387416",
                          "type": "Agent"
                        },
                        "comments": "The GrpMax filtering allele frequency in gnomAD v4.1.0 is 0.0001188 from the African/African American genetic ancestry group (the lower threshold of the 95% CI of 21/74738 alleles), which is higher than the ClinGen Leukodystrophy and Leukoencephalopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GFAP Version 1.0.0 threshold ≥ 0.01% for BA1, and therefore meets this criterion (BA1).",
                        "contributionDate": {
                          "date": "2026/8/18",
                          "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": "CA217126/MONDO:0008752/157/ci/CA217126/MONDO:0008752/157.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA217126/MONDO:0008752/157/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA217126/MONDO:0008752/157/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA217126/MONDO:0008752/157/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA217126/MONDO:0008752/157",
    "metadata": {
      "created": "2026-08-18T20:30:43.863Z",
      "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": "Tue, 18 Aug 2026 20:30:43 -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": "2381c78a-d14e-425b-993d-f0ef29f0d9e1",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA217126",
      "id": "CAR:CA217126",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_002055.5:c.1140C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_002055.5(GFAP):c.1140C>T (p.Pro380=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-15T16:39:48.798Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}