{
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    "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/CA10549902/MONDO:0018544/105/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10549902/MONDO:0018544/105/ei/1/1805",
            "contribution": [
              {
                "agent": {
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                  "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/4/15",
                  "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/CA10549902/MONDO:0018544/105/el/0/1804/1806",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                          "type": "Agent"
                        },
                        "comments": "The filtering allele frequency (the lower threshold of the 95% CI of 41/1036386) of the c.55G>T (p.Ala19Ser)\nvariant in ABCD1 is 0.00002617 for non-Finnish European exomes by gnomAD v4.1, which is higher than the ClinGen Peroxisomal Disorders VCEP threshold (>=0.000017) for BS1, and therefore meets this criterion (BS1). 10 hemizygotes are noted in gnomAD v4.1 for this variant. ",
                        "contributionDate": {
                          "date": "2026/4/15",
                          "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": "CA10549902/MONDO:0018544/105/ci/CA10549902/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/0/1804",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10549902/MONDO:0018544/105/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10549902/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": "2026/4/15",
                  "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/CA10549902/MONDO:0018544/105/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10549902/MONDO:0018544/105/ci/CA10549902/MONDO:0018544/105.002",
                    "contribution": [
                      {
                        "agent": {
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                          "id": "CG-PCER-AGENT:CG_50049_EP177618055787822",
                          "type": "Agent"
                        },
                        "comments": "The computational splicing predictor SpliceAI gives a score of 0 for donor and acceptor loss and gain, suggesting that the variant has no impact on splicing. The exonic variant in exon 1 is not located in the first or last three bases of the exon. (BP7)",
                        "contributionDate": {
                          "date": "2026/4/15",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10549902/MONDO:0018544/105/ci/CA10549902/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/0/1654",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10549902/MONDO:0018544/105/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10549902/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": "2026/4/15",
                  "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/CA10549902/MONDO:0018544/105/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA10549902/MONDO:0018544/105/ci/CA10549902/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 for donor and acceptor loss and gain, suggesting that the variant has no impact on splicing (BP4)",
                        "contributionDate": {
                          "date": "2026/4/15",
                          "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": "CA10549902/MONDO:0018544/105/ci/CA10549902/MONDO:0018544/105.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA10549902/MONDO:0018544/105",
    "metadata": {
      "created": "2026-04-15T15:02:37.622Z",
      "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": "Wed, 15 Apr 2026 15:02:37 -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": "f60baeb0-e0a6-4c3b-96aa-5a7d6929c12c",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10549902",
      "id": "CAR:CA10549902",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000033.4:c.54G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000033.4(ABCD1):c.54G>A (p.Thr18=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T07:42:48.968Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}