{
  "data": [
    {
      "@context": "https://erepo.genome.network/evrepo/api/context",
      "@id": "https://erepo.genome.network/evrepo/api/summary/classification/6525f07c-2ebf-4229-9447-62d126ad46cd/doc/sepio/version/1.0.0",
      "assertionMethod": {
        "type": "VariantPathogenicityInterpretationGuideline"
      },
      "condition": {
        "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0018997",
        "id": "MONDO:0018997",
        "label": "Noonan syndrome",
        "type": "GeneticCondition"
      },
      "evidenceLine": [
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/el/0/1828",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/ei/1/1829",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA220158/MONDO:0018997/004/el/0/1828/1830",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                            "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                            "type": "Agent"
                          },
                          "comments": "Additionally, at least 2  functional studies have been concordant in showing that this variant may be deleterious to the protein (PS3; PMID 14974085, 15987685, 19509418, 20308328).",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1828/1830",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/1/1829",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1828",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/el/0/1648",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/ei/1/1649",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA220158/MONDO:0018997/004/el/0/1648/1650",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                            "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                            "type": "Agent"
                          },
                          "comments": "The variant has co-segregated with disease in more than 7 family members (PP1_Strong; PMID: 11992261).",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1648/1650",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/1/1649",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1648",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/el/0/1672",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/ei/1/1673",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA220158/MONDO:0018997/004/el/0/1672/1674",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                            "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                            "type": "Agent"
                          },
                          "comments": "The p.Asn308Asp variant in PTPN11 has been reported in the literature as a confirmed and unconfirmed de novo occurrence in 2 patients with clinical features of a RASopathy (PS2, PM6; PMID 20979190, and 11704759, 22465605).",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1672/1674",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/1/1673",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Not Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1672",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/el/0/1798",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/ei/1/1799",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA220158/MONDO:0018997/004/el/0/1798/1800",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                            "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                            "type": "Agent"
                          },
                          "comments": "This variant was absent from large population studies (PM2; ExAC, http://exac.broadinstitute.org).",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1798/1800",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/1/1799",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1798",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/el/0/1624",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/ei/1/1625",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA220158/MONDO:0018997/004/el/0/1624/1626",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                            "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                            "type": "Agent"
                          },
                          "comments": "The p.Asn308Asp variant in PTPN11 has been reported in the literature as a confirmed and unconfirmed de novo occurrence in 2 patients with clinical features of a RASopathy (PS2, PM6; PMID 20979190, and 11704759, 22465605).",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1624/1626",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/1/1625",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1624",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/el/0/1837",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/ei/1/1838",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA220158/MONDO:0018997/004/el/0/1837/1839",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                            "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                            "type": "Agent"
                          },
                          "comments": "The variant is located in the PTPN11 gene, which has been defined by the ClinGen RASopathy Expert Panel as a gene with a low rate of benign missense variants and pathogenic missense variants are common  (PP2; PMID 29493581)",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1837/1839",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/1/1838",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1837",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/el/0/1747",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA220158/MONDO:0018997/004/ei/1/1748",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                    "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2018/12/10",
                    "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/CA220158/MONDO:0018997/004/el/0/1747/1749",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081",
                            "id": "CG-PCER-AGENT:CG_50021_EP155190663717081",
                            "type": "Agent"
                          },
                          "comments": "Computational prediction tools and conservation analysis suggest that the p.Asn308Asp variant may impact the protein (PP3).",
                          "contributionDate": {
                            "date": "2018/12/10",
                            "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": "CA220158/MONDO:0018997/004/ci/CA220158/MONDO:0018997/004.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1747/1749",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/1/1748",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004/0/1747",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA220158/MONDO:0018997/004",
      "metadata": {
        "created": "2024-09-27T19:46:23.395Z",
        "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": "Fri, 27 Sep 2024 19:46:23 -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": "6525f07c-2ebf-4229-9447-62d126ad46cd",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA220158",
        "id": "CAR:CA220158",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_002834.4:c.922A>G"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp)"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-06-03T17:46:17.822Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}