{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/647cd6e5-0b17-415f-9309-9955f27e6ce8/doc/sepio/version/1.0.0",
    "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",
      "url": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0019497",
      "id": "MONDO:0019497",
      "label": "nonsyndromic genetic deafness",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/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": "2023/2/6",
                  "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/CA6198221/MONDO:0019497/005/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6198221/MONDO:0019497/005/ci/CA6198221/MONDO:0019497/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "The highest population minor allele frequency in gnomAD v2.1.1 is 0.006% (7/110006 alleles) in the European (non-Finnish)  population, which is lower than the ClinGen Hearing Loss VCEP threshold (<0.007%) for PM2_Supporting. ",
                        "contributionDate": {
                          "date": "2023/2/6",
                          "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": "CA6198221/MONDO:0019497/005/ci/CA6198221/MONDO:0019497/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/el/0/1651",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/ei/1/1652",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/2/6",
                  "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/0058",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0058",
              "label": "PM3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/el/0/1651/1653",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6198221/MONDO:0019497/005/ci/CA6198221/MONDO:0019497/005.002",
                    "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 has been detected in five individuals with hearing loss or clinical features of Usher syndrome who were compound heterozygous for the variant and a pathogenic or likely pathogenic variant. However, for each individual phase was unknown (PMID: 10094549, 26969326, SCV001533246.2, 2.5 PM3 points) (PM3_Strong, PP4). \n1) Invitae internal evidence - Ala1288Pro and p.Tyr403Cys phase unknown in 1 proband with Profound SNHL, prelingual, vestibular dysfunction, RP - 0.5pt PM3, PP4\n2) Invitae internal Evidence - Phase unknown with c.2838del p.Met946Ilefs*116 (NMD+, 1/112084 alleles gnomAD, PM2_S met) dx of Usher syndrome (0.5 PM3, PP4) ****AO NOTE: double check the MAF! Which subpopulation? [update 1.01.2023, european non-finnish)\n3) PMID:10094549\n4 and 5) 26969326",
                        "contributionDate": {
                          "date": "2023/2/6",
                          "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": "CA6198221/MONDO:0019497/005/ci/CA6198221/MONDO:0019497/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/0/1651/1653",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/1/1652",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/0/1651",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/2/6",
                  "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/0062",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0062",
              "label": "PP3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6198221/MONDO:0019497/005/ci/CA6198221/MONDO:0019497/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.833, evidence that correlates with impact to MYO7A function (PP3).",
                        "contributionDate": {
                          "date": "2023/2/6",
                          "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": "CA6198221/MONDO:0019497/005/ci/CA6198221/MONDO:0019497/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                  "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2023/2/6",
                  "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/0063",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0063",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA6198221/MONDO:0019497/005/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA6198221/MONDO:0019497/005/ci/CA6198221/MONDO:0019497/005.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139",
                          "id": "CG-PCER-AGENT:CG_50007_EP155190799758139",
                          "type": "Agent"
                        },
                        "comments": "Several individuals with features of Usher syndrome, See PM3 for details. ",
                        "contributionDate": {
                          "date": "2023/2/6",
                          "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": "CA6198221/MONDO:0019497/005/ci/CA6198221/MONDO:0019497/005.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005/0/1633",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA6198221/MONDO:0019497/005",
    "metadata": {
      "created": "2024-09-28T01:14:42.043Z",
      "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 01:14:41 -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": "647cd6e5-0b17-415f-9309-9955f27e6ce8",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA6198221",
      "id": "CAR:CA6198221",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000260.4:c.3862G>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T17:55:40.811Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}