{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/fcdc1140-e906-4094-ae0a-feca9047e230/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637573",
      "label": "ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2",
      "type": "VariantPathogenicityInterpretationGuideline",
      "url": "https://clinicalgenome.org/docs/clingen-familial-hypercholesterolemia-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1-2/",
      "version": "1.2.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0007750",
      "id": "MONDO:0007750",
      "label": "hypercholesterolemia, familial",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/el/0/1798",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/ei/1/1799",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/16",
                  "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/CA404084655/MONDO:0007750/013/el/0/1798/1800",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD (gnomAD v20210610).",
                        "contributionDate": {
                          "date": "2025/9/16",
                          "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": "CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/16",
                  "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/CA404084655/MONDO:0007750/013/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "comments": "REVEL = 0.502, it is not above 0.75, splicing evaluation required.\nFunctional data on splicing not available.\nA) Variant within limits\nMES scores: canonical site variant = 7.47; canonical acceptor wt = 6.59.\nRatio: 7.47/6.59 = 1.13---- It is not <0.8.\n\nVariant is not predicted to alter splicing",
                        "contributionDate": {
                          "date": "2025/9/16",
                          "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": "CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/16",
                  "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/CA404084655/MONDO:0007750/013/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "comments": "REVEL = 0.502, it is not below 0.50.",
                        "contributionDate": {
                          "date": "2025/9/16",
                          "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": "CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/16",
                  "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/CA404084655/MONDO:0007750/013/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "contributionDate": {
                          "date": "2025/9/16",
                          "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": "CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1777",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/el/0/1765",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/ei/1/1766",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/16",
                  "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/CA404084655/MONDO:0007750/013/el/0/1765/1767",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "comments": "There are no variants causing the same amino acid change classified as Pathogenic by these guidelines.\n",
                        "contributionDate": {
                          "date": "2025/9/16",
                          "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": "CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1765/1767",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/1/1766",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1765",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/el/0/1804",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/ei/1/1805",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/16",
                  "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/CA404084655/MONDO:0007750/013/el/0/1804/1806",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "contributionDate": {
                          "date": "2025/9/16",
                          "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": "CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1804/1806",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/1/1805",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1804",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/el/0/1780",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA404084655/MONDO:0007750/013/ei/1/1781",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                  "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/9/16",
                  "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/CA404084655/MONDO:0007750/013/el/0/1780/1782",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642",
                          "id": "CG-PCER-AGENT:CG_50004_EP162454503244642",
                          "type": "Agent"
                        },
                        "comments": "2 other missense variants in the same codon:\n- NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr) (ClinVar ID 251725)\n- Uncertain significance by these guidelines\n- NM_000527.5(LDLR):c.1190C>T (p.Ser397Phe) (ClinVar ID 925475)\n- Uncertain significance by these guidelines\nThere are no variants in the same codon classified as Pathogenic by these guidelines.\n",
                        "contributionDate": {
                          "date": "2025/9/16",
                          "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": "CA404084655/MONDO:0007750/013/ci/CA404084655/MONDO:0007750/013.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1780/1782",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/1/1781",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013/0/1780",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA404084655/MONDO:0007750/013",
    "metadata": {
      "created": "2025-09-16T00:59:58.404Z",
      "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": "Tue, 16 Sep 2025 00:59:58 -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": "fcdc1140-e906-4094-ae0a-feca9047e230",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA404084655",
      "id": "CAR:CA404084655",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000527.5:c.1189T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000527.5(LDLR):c.1189T>C (p.Ser397Pro)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T09:32:11.392Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}