{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/596104d5-6f6e-4053-9e5e-70a0ae0b1f08/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/CA238543/MONDO:0018544/105/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA238543/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/CA238543/MONDO:0018544/105/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA238543/MONDO:0018544/105/ci/CA238543/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 ABCD1 c.750G>C (p.Val250=) variant is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing (SpliceAI score: 0.0). Conservation is not considered in the BP7 code per the Walker et al guidance. \n",
                        "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": "CA238543/MONDO:0018544/105/ci/CA238543/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/0/1654",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA238543/MONDO:0018544/105/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA238543/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/CA238543/MONDO:0018544/105/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA238543/MONDO:0018544/105/ci/CA238543/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 and v3.1.2. It is reported in gnomAD v4.1 at a frequency of 0.000001120 (1/892612 alleles) in the non-Finnish European population with no hemizygotes, which is below the threshold of 0.0000017 set by the Peroxisomal Disorders VCEP (PM2_Supporting).\n",
                        "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": "CA238543/MONDO:0018544/105/ci/CA238543/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA238543/MONDO:0018544/105/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA238543/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/CA238543/MONDO:0018544/105/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA238543/MONDO:0018544/105/ci/CA238543/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": "Results from in the silico predictor SpliceAI suggest that the variant does not impact ABCD1 function (SpliceAI score: 0.0), which is below the threshold of 0.2 set by the ClinGen Peroxisomal Disorders VCEP. \n",
                        "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": "CA238543/MONDO:0018544/105/ci/CA238543/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA238543/MONDO:0018544/105",
    "metadata": {
      "created": "2026-04-16T20:17:17.010Z",
      "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 20:17:16 -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": "596104d5-6f6e-4053-9e5e-70a0ae0b1f08",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA238543",
      "id": "CAR:CA238543",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000033.4:c.750G>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000033.4(ABCD1):c.750G>C (p.Val250=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T23:08:01.833Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}