{
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    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577",
      "label": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2,\nKCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0011058",
      "id": "MONDO:0011058",
      "label": "autosomal dominant nonsyndromic deafness 9",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA389344542/MONDO:0011058/005/el/0/1747",
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                  "type": "Agent"
                },
                "contributionDate": {
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                  "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/CA389344542/MONDO:0011058/005/el/0/1747/1749",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "The amino acid residue is well conserved and the REVEL computational prediction analysis tool produced a score of 0.885, which is above the threshold necessary to apply PP3 ",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA389344542/MONDO:0011058/005/ci/CA389344542/MONDO:0011058/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA389344542/MONDO:0011058/005/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA389344542/MONDO:0011058/005/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA389344542/MONDO:0011058/005/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA389344542/MONDO:0011058/005/ci/CA389344542/MONDO:0011058/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v4.1.0 ",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA389344542/MONDO:0011058/005/ci/CA389344542/MONDO:0011058/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA389344542/MONDO:0011058/005/el/0/1621",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA389344542/MONDO:0011058/005/ei/1/1622",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/6/30",
                  "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/CA389344542/MONDO:0011058/005/el/0/1621/1623",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA389344542/MONDO:0011058/005/ci/CA389344542/MONDO:0011058/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "Three different missense variants, c.259G>T; p.Gly87Trp [PMID:16835921, ClinVar Variation ID: 1297642], c.260G>C; p.Gly87Ala [ClinVar Variation ID: 517362, with variant segregation in 3 affected family members per lab communication], and c.260G>T; p.Gly87Val [PMIDs:23767834, 23993205], have been classified as pathogenic or likely pathogenic for autosomal dominant, adult-onset hearing loss with vestibular symptoms.",
                        "contributionDate": {
                          "date": "2025/6/30",
                          "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": "CA389344542/MONDO:0011058/005/ci/CA389344542/MONDO:0011058/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/0/1621/1623",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/1/1622",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005/0/1621",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA389344542/MONDO:0011058/005",
    "metadata": {
      "created": "2025-06-30T15:05:03.946Z",
      "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": "Mon, 30 Jun 2025 15:05:03 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "48a94ed3-cda9-48dd-b66c-e3750ab27f87",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA389344542",
      "id": "CAR:CA389344542",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_004086.3:c.260G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_004086.3(COCH):c.260G>A (p.Gly87Glu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-27T13:12:29.180Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}