{
  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021",
  "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021",
  "type": "VariantPathogenicityInterpretation",
  "@context": "https://erepo.genome.network/evrepo/api/context",
  "uuid": "fc9045f6-6b42-44b3-91a2-bb334c06b05f",
  "metadata": {
    "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
    "contentVersionId": 9223372036854775807,
    "producedAtUTC": "Tue, 14 Apr 2026 20:47:53 -0000",
    "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."
  },
  "variant": {
    "@id": "https://reg.genome.network/allele/CA285292",
    "id": "CAR:CA285292",
    "type": "CAR",
    "relatedContextualAllele": [
      {
        "alleleName": [
          {
            "name": "NM_000018.4:c.194C>T"
          }
        ],
        "preferred": true
      }
    ],
    "relatedIdentifier": [
      {
        "label": "NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu)"
      }
    ]
  },
  "condition": {
    "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0008723",
    "id": "MONDO:0008723",
    "type": "GeneticCondition",
    "label": "very long chain acyl-CoA dehydrogenase deficiency"
  },
  "statementOutcome": {
    "@id": "https://loinc.org/LA6675-8",
    "id": "LN:LA6675-8",
    "label": "Benign"
  },
  "assertionMethod": {
    "type": "VariantPathogenicityInterpretationGuideline"
  },
  "evidenceLine": [
    {
      "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1645",
      "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1645",
      "type": "EvidenceLine",
      "evidenceStrength": {
        "@id": "https://obofoundry.org/sepio"
      },
      "evidenceItem": [
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/ei/1/1646",
          "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/1/1646",
          "type": "CriterionAssessment",
          "statementOutcome": {
            "@id": "SEPIO:0000224",
            "label": "Met"
          },
          "contribution": [
            {
              "type": "Contribution",
              "agent": {
                "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                "type": "Agent"
              },
              "contributionDate": {
                "date": "2022/3/8",
                "description": "Date on which this evidence was provided"
              },
              "contributionRole": {
                "@id": "https://obofoundry.org/sepio/0000156",
                "id": "SEPIO:0000516",
                "type": "ContributoryRole",
                "label": "curator role"
              }
            }
          ],
          "evidenceLine": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1645/1647",
              "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1645/1647",
              "type": "EvidenceLine",
              "evidenceItem": [
                {
                  "@id": "CG-PCER:curatorInference/CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "id": "CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "type": "InfFromBkgrndSciKnow",
                  "contribution": [
                    {
                      "type": "Contribution",
                      "agent": {
                        "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                        "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                        "type": "Agent"
                      },
                      "contributionDate": {
                        "date": "2022/3/8",
                        "description": "Date on which this evidence was provided"
                      },
                      "contributionRole": {
                        "@id": "https://obofoundry.org/sepio/0000156",
                        "id": "SEPIO:0000516",
                        "type": "ContributoryRole",
                        "label": "curator role"
                      },
                      "comments": "Two mutant cDNAs having either K247Q or P65L were transiently expressed in SV40-transformed fibroblasts from a patient with homozygous null variants. Palmitoyl-CoA dehydrogenase activity in the transfectants with normal VLCAD was more than 15 times higher than the endogenous activity with mock cDNAs, and the activity in the transfectant with P65L was almost the same as that with normal cDNA. Ths is a generally accepted assay and so meets BS3 supporting."
                    }
                  ]
                }
              ]
            }
          ]
        }
      ]
    },
    {
      "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1777",
      "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1777",
      "type": "EvidenceLine",
      "evidenceStrength": {
        "@id": "https://obofoundry.org/sepio"
      },
      "evidenceItem": [
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/ei/1/1778",
          "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/1/1778",
          "type": "CriterionAssessment",
          "statementOutcome": {
            "@id": "SEPIO:0000224",
            "label": "Met"
          },
          "contribution": [
            {
              "type": "Contribution",
              "agent": {
                "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                "type": "Agent"
              },
              "contributionDate": {
                "date": "2022/3/8",
                "description": "Date on which this evidence was provided"
              },
              "contributionRole": {
                "@id": "https://obofoundry.org/sepio/0000156",
                "id": "SEPIO:0000516",
                "type": "ContributoryRole",
                "label": "curator role"
              }
            }
          ],
          "evidenceLine": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1777/1779",
              "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1777/1779",
              "type": "EvidenceLine",
              "evidenceItem": [
                {
                  "@id": "CG-PCER:curatorInference/CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "id": "CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "type": "InfFromBkgrndSciKnow",
                  "contribution": [
                    {
                      "type": "Contribution",
                      "agent": {
                        "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                        "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                        "type": "Agent"
                      },
                      "contributionDate": {
                        "date": "2022/3/8",
                        "description": "Date on which this evidence was provided"
                      },
                      "contributionRole": {
                        "@id": "https://obofoundry.org/sepio/0000156",
                        "id": "SEPIO:0000516",
                        "type": "ContributoryRole",
                        "label": "curator role"
                      },
                      "comments": "MAF of 0.1129 in the African Population in gnomAD"
                    }
                  ]
                }
              ]
            }
          ]
        }
      ]
    },
    {
      "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1684",
      "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1684",
      "type": "EvidenceLine",
      "evidenceStrength": {
        "@id": "https://obofoundry.org/sepio"
      },
      "evidenceItem": [
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/ei/1/1685",
          "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/1/1685",
          "type": "CriterionAssessment",
          "statementOutcome": {
            "@id": "SEPIO:0000224",
            "label": "Met"
          },
          "contribution": [
            {
              "type": "Contribution",
              "agent": {
                "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                "type": "Agent"
              },
              "contributionDate": {
                "date": "2022/3/8",
                "description": "Date on which this evidence was provided"
              },
              "contributionRole": {
                "@id": "https://obofoundry.org/sepio/0000156",
                "id": "SEPIO:0000516",
                "type": "ContributoryRole",
                "label": "curator role"
              }
            }
          ],
          "evidenceLine": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1684/1686",
              "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1684/1686",
              "type": "EvidenceLine",
              "evidenceItem": [
                {
                  "@id": "CG-PCER:curatorInference/CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "id": "CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "type": "InfFromBkgrndSciKnow",
                  "contribution": [
                    {
                      "type": "Contribution",
                      "agent": {
                        "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                        "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                        "type": "Agent"
                      },
                      "contributionDate": {
                        "date": "2022/3/8",
                        "description": "Date on which this evidence was provided"
                      },
                      "contributionRole": {
                        "@id": "https://obofoundry.org/sepio/0000156",
                        "id": "SEPIO:0000516",
                        "type": "ContributoryRole",
                        "label": "curator role"
                      },
                      "comments": "REVEL score of 0.276"
                    }
                  ]
                }
              ]
            }
          ]
        }
      ]
    },
    {
      "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1597",
      "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1597",
      "type": "EvidenceLine",
      "evidenceStrength": {
        "@id": "https://obofoundry.org/sepio"
      },
      "evidenceItem": [
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/ei/1/1598",
          "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/1/1598",
          "type": "CriterionAssessment",
          "statementOutcome": {
            "@id": "SEPIO:0000224",
            "label": "Not Met"
          },
          "contribution": [
            {
              "type": "Contribution",
              "agent": {
                "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                "type": "Agent"
              },
              "contributionDate": {
                "date": "2022/3/8",
                "description": "Date on which this evidence was provided"
              },
              "contributionRole": {
                "@id": "https://obofoundry.org/sepio/0000156",
                "id": "SEPIO:0000516",
                "type": "ContributoryRole",
                "label": "curator role"
              }
            }
          ],
          "evidenceLine": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1597/1599",
              "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1597/1599",
              "type": "EvidenceLine",
              "evidenceItem": [
                {
                  "@id": "CG-PCER:curatorInference/CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "id": "CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "type": "InfFromBkgrndSciKnow",
                  "contribution": [
                    {
                      "type": "Contribution",
                      "agent": {
                        "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                        "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                        "type": "Agent"
                      },
                      "contributionDate": {
                        "date": "2022/3/8",
                        "description": "Date on which this evidence was provided"
                      },
                      "contributionRole": {
                        "@id": "https://obofoundry.org/sepio/0000156",
                        "id": "SEPIO:0000516",
                        "type": "ContributoryRole",
                        "label": "curator role"
                      },
                      "comments": "Observed in-cis with 739A>C (K247Q), a known pathogenic variant; however, the VCEP has not yet curated this variant. "
                    }
                  ]
                }
              ]
            }
          ]
        }
      ]
    },
    {
      "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/el/0/1828",
      "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1828",
      "type": "EvidenceLine",
      "evidenceStrength": {
        "@id": "https://obofoundry.org/sepio"
      },
      "evidenceItem": [
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA285292/MONDO:0008723/021/ei/1/1829",
          "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/1/1829",
          "type": "CriterionAssessment",
          "statementOutcome": {
            "@id": "SEPIO:0000224",
            "label": "Not Met"
          },
          "contribution": [
            {
              "type": "Contribution",
              "agent": {
                "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                "type": "Agent"
              },
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                "date": "2022/3/8",
                "description": "Date on which this evidence was provided"
              },
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                "@id": "https://obofoundry.org/sepio/0000156",
                "id": "SEPIO:0000516",
                "type": "ContributoryRole",
                "label": "curator role"
              }
            }
          ],
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              "id": "CG-PCER-VARINT:CA285292/MONDO:0008723/021/0/1828/1830",
              "type": "EvidenceLine",
              "evidenceItem": [
                {
                  "@id": "CG-PCER:curatorInference/CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "id": "CA285292/MONDO:0008723/021/ci/CA285292/MONDO:0008723/021.002",
                  "type": "InfFromBkgrndSciKnow",
                  "contribution": [
                    {
                      "type": "Contribution",
                      "agent": {
                        "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50048_EP16455509033668",
                        "id": "CG-PCER-AGENT:CG_50048_EP16455509033668",
                        "type": "Agent"
                      },
                      "contributionDate": {
                        "date": "2022/3/8",
                        "description": "Date on which this evidence was provided"
                      },
                      "contributionRole": {
                        "@id": "https://obofoundry.org/sepio/0000156",
                        "id": "SEPIO:0000516",
                        "type": "ContributoryRole",
                        "label": "curator role"
                      },
                      "comments": "Although there is some evidence that this variant causes abberant splicing, other follow-up sources such as PMID:17374501 demonstrated that this still results in a stable protein that has a high specific activity. Therefore, this does not meet PS3."
                    }
                  ]
                }
              ]
            }
          ]
        }
      ]
    }
  ]
}