{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/e0a3a529-4118-4672-a494-cb50bb2c6202/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1537428517",
      "label": "ClinGen Peroxisomal Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ABCD1 Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0018544",
      "id": "MONDO:0018544",
      "label": "adrenoleukodystrophy",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA519210960/MONDO:0018544/105/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA519210960/MONDO:0018544/105/ei/1/1655",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                  "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/16",
                  "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/CA519210960/MONDO:0018544/105/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA519210960/MONDO:0018544/105/ci/CA519210960/MONDO:0018544/105.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                          "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                          "type": "Agent"
                        },
                        "comments": "The c.21C>T (p.Pro7=) variant is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing (score of 0.00 for donor/acceptor loss). Conservation is not considered in the BP7 code per the Walker et al guidance. ",
                        "contributionDate": {
                          "date": "2026/4/16",
                          "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": "CA519210960/MONDO:0018544/105/ci/CA519210960/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/0/1654",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA519210960/MONDO:0018544/105/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA519210960/MONDO:0018544/105/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                  "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/16",
                  "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/CA519210960/MONDO:0018544/105/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA519210960/MONDO:0018544/105/ci/CA519210960/MONDO:0018544/105.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                          "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v2.1.1, v3.1.2, and v4.0.0 (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2026/4/16",
                          "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": "CA519210960/MONDO:0018544/105/ci/CA519210960/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA519210960/MONDO:0018544/105/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA519210960/MONDO:0018544/105/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                  "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/16",
                  "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/CA519210960/MONDO:0018544/105/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA519210960/MONDO:0018544/105/ci/CA519210960/MONDO:0018544/105.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50049_EP177618055787822",
                          "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                          "type": "Agent"
                        },
                        "comments": "The computational splicing predictor SpliceAI gives a score of 0.0 for donor/acceptor loss suggesting that the variant has no impact on splicing (BP4).",
                        "contributionDate": {
                          "date": "2026/4/16",
                          "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": "CA519210960/MONDO:0018544/105/ci/CA519210960/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA519210960/MONDO:0018544/105",
    "metadata": {
      "created": "2026-04-16T20:26:24.245Z",
      "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": "Thu, 16 Apr 2026 20:26:24 -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": "e0a3a529-4118-4672-a494-cb50bb2c6202",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA519210960",
      "id": "CAR:CA519210960",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000033.4:c.21C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000033.4(ABCD1):c.21C>T (p.Pro7=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T20:07:21.727Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}