{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://erepo.genome.network/evrepo/api/summary/classification/f4d748df-6d55-4a70-8801-ed14337c7572/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637588",
      "label": "ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0044970",
      "id": "MONDO:0044970",
      "label": "mitochondrial disease",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913175191/MONDO:0044970/015/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913175191/MONDO:0044970/015/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50027_EP162030441573574",
                  "id": "CG-PCER-AGENT:CG_50027_EP162030441573574",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/10/29",
                  "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/CA913175191/MONDO:0044970/015/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA913175191/MONDO:0044970/015/ci/CA913175191/MONDO:0044970/015.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50027_EP162030441573574",
                          "id": "CG-PCER-AGENT:CG_50027_EP162030441573574",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent in the MITOMAP GenBank sequences and gnomAD v3.1.2, and there is one heteroplasmic occurrence in the Helix dataset (PM2_supporting). ",
                        "contributionDate": {
                          "date": "2025/10/29",
                          "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": "CA913175191/MONDO:0044970/015/ci/CA913175191/MONDO:0044970/015.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913175191/MONDO:0044970/015/el/0/1696",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913175191/MONDO:0044970/015/ei/1/1697",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50027_EP162030441573574",
                  "id": "CG-PCER-AGENT:CG_50027_EP162030441573574",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/10/29",
                  "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/CA913175191/MONDO:0044970/015/el/0/1696/1698",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA913175191/MONDO:0044970/015/ci/EV000001895",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50027_EP162030441573574",
                          "id": "CG-PCER-AGENT:CG_50027_EP162030441573574",
                          "type": "Agent"
                        },
                        "comments": "Functional characterization of the mutant tRNA suggest the variant changes the tRNA conformation, reduces the stability of the tRNA, reduces charging capacity of the tRNA, and affects modification of the tRNA (PMID: 29648639, PS3_supporting). ",
                        "contributionDate": {
                          "date": "2025/10/29",
                          "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": "CA913175191/MONDO:0044970/015/ci/EV000001895",
                    "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/29648639",
                    "type": "CuratorInference"
                  }
                ],
                "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/0/1696/1698",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/1/1697",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/0/1696",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913175191/MONDO:0044970/015/el/0/1672",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913175191/MONDO:0044970/015/ei/1/1673",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50027_EP162030441573574",
                  "id": "CG-PCER-AGENT:CG_50027_EP162030441573574",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/10/29",
                  "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/CA913175191/MONDO:0044970/015/el/0/1672/1674",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA913175191/MONDO:0044970/015/ci/CA913175191/MONDO:0044970/015.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50027_EP162030441573574",
                          "id": "CG-PCER-AGENT:CG_50027_EP162030441573574",
                          "type": "Agent"
                        },
                        "comments": "The variant was not detected in blood from the mother and brother, however technology at the time was limited in detecting low heteroplasmy levels. ",
                        "contributionDate": {
                          "date": "2025/10/29",
                          "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": "CA913175191/MONDO:0044970/015/ci/CA913175191/MONDO:0044970/015.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/0/1672/1674",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/1/1673",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/0/1672",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913175191/MONDO:0044970/015/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA913175191/MONDO:0044970/015/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50027_EP162030441573574",
                  "id": "CG-PCER-AGENT:CG_50027_EP162030441573574",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/10/29",
                  "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/CA913175191/MONDO:0044970/015/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA913175191/MONDO:0044970/015/ci/CA913175191/MONDO:0044970/015.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50027_EP162030441573574",
                          "id": "CG-PCER-AGENT:CG_50027_EP162030441573574",
                          "type": "Agent"
                        },
                        "comments": "MitoTIP predicts the variant is possible pathogenic (73.7 percentile) and HmtVAR predicts the variant is pathogenic (0.55, PP3). ",
                        "contributionDate": {
                          "date": "2025/10/29",
                          "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": "CA913175191/MONDO:0044970/015/ci/CA913175191/MONDO:0044970/015.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015/0/1747",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA913175191/MONDO:0044970/015",
    "metadata": {
      "created": "2025-10-29T16:21:20.669Z",
      "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, 29 Oct 2025 16:21:20 -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": "f4d748df-6d55-4a70-8801-ed14337c7572",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA913175191",
      "id": "CAR:CA913175191",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NC_012920.1:m.15915G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NC_012920.1(MT-TT):m.15915G>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-06-04T09:59:04.508Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}