{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/58415c85-72ce-40b5-a9cf-d3fe0437986c/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0008723",
      "id": "MONDO:0008723",
      "label": "very long chain acyl-CoA dehydrogenase deficiency",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2499224908/MONDO:0008723/021/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2499224908/MONDO:0008723/021/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                  "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/12/14",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0030",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2499224908/MONDO:0008723/021/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2499224908/MONDO:0008723/021/ci/CA2499224908/MONDO:0008723/021.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                          "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v2.1.1 (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2022/12/14",
                          "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": "CA2499224908/MONDO:0008723/021/ci/CA2499224908/MONDO:0008723/021.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2499224908/MONDO:0008723/021/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2499224908/MONDO:0008723/021/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2499224908/MONDO:0008723/021/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2499224908/MONDO:0008723/021/el/0/1612",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2499224908/MONDO:0008723/021/ei/1/1613",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                  "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2022/12/14",
                  "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"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0026",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0026",
              "label": "PVS1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2499224908/MONDO:0008723/021/el/0/1612/1614",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA2499224908/MONDO:0008723/021/ci/CA2499224908/MONDO:0008723/021.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                          "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                          "type": "Agent"
                        },
                        "comments": "The c.1808del (p.Cys603fs) variant in ACADVL, also known as p.Cys603LeufsTer77, is a frameshift variant that may cause loss of function of the protein; however it is predicted to escape nonsense mediated decay and remove <10% of the protein (PVS1_Moderate). ",
                        "contributionDate": {
                          "date": "2022/12/14",
                          "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": "CA2499224908/MONDO:0008723/021/ci/CA2499224908/MONDO:0008723/021.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA2499224908/MONDO:0008723/021/0/1612/1614",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA2499224908/MONDO:0008723/021/1/1613",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA2499224908/MONDO:0008723/021/0/1612",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA2499224908/MONDO:0008723/021",
    "metadata": {
      "created": "2024-09-28T01:01:07.024Z",
      "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": "Sat, 28 Sep 2024 01:01:06 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "58415c85-72ce-40b5-a9cf-d3fe0437986c",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA2499224908",
      "id": "CAR:CA2499224908",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000018.4:c.1808del"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000018.4(ACADVL):c.1808del (p.Cys603fs)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T23:16:47.913Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}