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      "label": "ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1",
      "type": "VariantPathogenicityInterpretationGuideline",
      "url": "https://clinicalgenome.org/docs/clingen-platelet-disorders-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-2.1/",
      "version": "2.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100326",
      "id": "MONDO:0100326",
      "label": "Glanzmann thrombasthenia",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/el/0/1594",
        "evidenceItem": [
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                },
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                  "label": "curator role",
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                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0017",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000220",
                "id": "SEPIO:0000220",
                "label": "Pathogenic Very Strong"
              },
              "id": "0017",
              "label": "PVS1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/el/0/1594/1596",
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                          "type": "Agent"
                        },
                        "comments": "The c.1642C>T (p.Gln548Ter) variant in exon 17 is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 17 and is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). ",
                        "contributionDate": {
                          "date": "2023/6/2",
                          "description": "Date on which this evidence was provided"
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                    ],
                    "id": "CA399802364/MONDO:0100326/011/ci/CA399802364/MONDO:0100326/011.002",
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                ],
                "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/el/0/1831",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/ei/1/1832",
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                  "label": "curator role",
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                "type": "Contribution"
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            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0018",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0018",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/el/0/1831/1833",
                "evidenceItem": [
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                    "contribution": [
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                          "type": "Agent"
                        },
                        "comments": "At least one patient (Patient 1 in PMID: 23624894) with this variant displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia. Additionally, αIIbβ3 surface expression was reduced to 0% (<25%), as measured by flow cytometry. Molecular genetic analysis was performed for the ITGA2B, but no genotyping was performed for ITGB3 (PP4_moderate). \n\n\n\n",
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                          "date": "2023/6/2",
                          "description": "Date on which this evidence was provided"
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                      }
                    ],
                    "id": "CA399802364/MONDO:0100326/011/ci/CA399802364/MONDO:0100326/011.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/0/1831/1833",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/1/1832",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/0/1831",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/el/0/1717",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/ei/1/1718",
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                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/007",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "007",
              "label": "PM3",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/el/0/1717/1719",
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                        "comments": "This variant has been detected in at least 1 proband with Glanzmann thrombasthenia (PMID:23624894). This individual was compound heterozygous for this variant and the NM_000419.3:c.1750C>T (Arg584Ter) variant, which was classified as Pathogenic by the PD VCEP. These variants were confirmed in trans by parental testing. NM_000419.3:c.1750C>T (Arg584Ter) does not meet PM2 so is not considered here.\n\n",
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                  }
                ],
                "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/0/1717/1719",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/1/1718",
            "statementOutcome": {
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              "label": "Not Met"
            },
            "type": "CriterionAssessment"
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        ],
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        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/ei/1/1637",
            "contribution": [
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                  "description": "Date on which this evidence was provided"
                },
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                  "@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": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA399802364/MONDO:0100326/011/el/0/1636/1638",
                "evidenceItem": [
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                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50040_EP161161244771392",
                          "type": "Agent"
                        },
                        "comments": "This variant is absent from gnomAD v2.1.1 (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2023/6/2",
                          "description": "Date on which this evidence was provided"
                        },
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                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA399802364/MONDO:0100326/011/ci/CA399802364/MONDO:0100326/011.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA399802364/MONDO:0100326/011",
    "metadata": {
      "created": "2024-09-28T02:04:54.678Z",
      "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 02:04:54 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "bdc06307-e375-4cad-a8a9-98626be2be20",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA399802364",
      "id": "CAR:CA399802364",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000419.5:c.1642C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000419.5:c.1642C>T"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-04T20:52:12.844Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}