{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/58857267-9ccc-410e-8413-e92fd4f15277/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1624749084",
      "label": "ClinGen Galactosemia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GALT Version 1.0.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0018116",
      "id": "MONDO:0018116",
      "label": "galactosemia",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA259481/MONDO:0018116/158/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA259481/MONDO:0018116/158/ei/1/1655",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50136_EP177861063280353",
                  "id": "CG-PCER-AGENT:CG_50136_EP177861063280353",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/6/23",
                  "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/CA259481/MONDO:0018116/158/el/0/1654/1656",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA259481/MONDO:0018116/158/ci/CA259481/MONDO:0018116/158.002",
                    "contribution": [
                      {
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                          "id": "CG-PCER-AGENT:CG_50136_EP177861063280353",
                          "type": "Agent"
                        },
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                        "contributionDate": {
                          "date": "2026/6/23",
                          "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": "CA259481/MONDO:0018116/158/ci/CA259481/MONDO:0018116/158.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/0/1654",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA259481/MONDO:0018116/158/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA259481/MONDO:0018116/158/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50136_EP177861063280353",
                  "id": "CG-PCER-AGENT:CG_50136_EP177861063280353",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/6/23",
                  "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/CA259481/MONDO:0018116/158/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA259481/MONDO:0018116/158/ci/CA259481/MONDO:0018116/158.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50136_EP177861063280353",
                          "id": "CG-PCER-AGENT:CG_50136_EP177861063280353",
                          "type": "Agent"
                        },
                        "comments": "The c.699C>A variant in GALT is not found in gnomAD v4.1.0, which is lower than the ClinGen Galactosemia threshold (≤ 0.0005) for PM2_Supporting, and therefore meets this criterion (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2026/6/23",
                          "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": "CA259481/MONDO:0018116/158/ci/CA259481/MONDO:0018116/158.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA259481/MONDO:0018116/158/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA259481/MONDO:0018116/158/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50136_EP177861063280353",
                  "id": "CG-PCER-AGENT:CG_50136_EP177861063280353",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/6/23",
                  "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/CA259481/MONDO:0018116/158/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA259481/MONDO:0018116/158/ci/CA259481/MONDO:0018116/158.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50136_EP177861063280353",
                          "id": "CG-PCER-AGENT:CG_50136_EP177861063280353",
                          "type": "Agent"
                        },
                        "comments": "The computational splicing predictor SpliceAI gives a score of 0.06 for donor loss and 0.02 for donor gain suggesting that the variant has no impact on splicing (BP4)",
                        "contributionDate": {
                          "date": "2026/6/23",
                          "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": "CA259481/MONDO:0018116/158/ci/CA259481/MONDO:0018116/158.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA259481/MONDO:0018116/158",
    "metadata": {
      "created": "2026-06-23T14:57:51.563Z",
      "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": "Tue, 23 Jun 2026 14:57:51 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26334-5",
      "id": "LN:LA26334-5",
      "label": "Likely Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "58857267-9ccc-410e-8413-e92fd4f15277",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA259481",
      "id": "CAR:CA259481",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_001258332.2:c.372C>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_001258332.2:c.372C>A"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-15T00:07:18.932Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}