{
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/4066d189-e5a2-4f99-82a1-3913da100053/doc/sepio/version/1.1.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637582",
      "label": "ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2",
      "type": "VariantPathogenicityInterpretationGuideline",
      "url": "https://clinicalgenome.org/docs/clingen-lysosomal-storage-disorders-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-2/",
      "version": "2.0.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0009290",
      "id": "MONDO:0009290",
      "label": "glycogen storage disease II",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243111/MONDO:0009290/010/el/0/1654",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243111/MONDO:0009290/010/ei/1/1655",
            "contribution": [
              {
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                  "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/7",
                  "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/CA243111/MONDO:0009290/010/el/0/1654/1656",
                "evidenceItem": [
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                    "contribution": [
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                          "type": "Agent"
                        },
                        "comments": "The computational splicing predictor SpliceAI gives a score of 0.01 for acceptor gain\nsuggesting that the variant has no impact on splicing (BP4). Additionally, this variant is at a nucleotide position that is not predicted to be highly conserved (PhyloP100 score: -2.893). Thus, BP7 can be applied.",
                        "contributionDate": {
                          "date": "2026/7/7",
                          "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": "CA243111/MONDO:0009290/010/ci/CA243111/MONDO:0009290/010.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/0/1654/1656",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/1/1655",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/0/1654",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243111/MONDO:0009290/010/el/0/1633",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243111/MONDO:0009290/010/ei/1/1634",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                  "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/7",
                  "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/CA243111/MONDO:0009290/010/el/0/1633/1635",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA243111/MONDO:0009290/010/ci/CA243111/MONDO:0009290/010.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "This variant has been reported in one individual in the Duke Molecular Genetics Laboratory with a second silent change (phase unknown) that is classified as a VUS. GAA enzyme is in the normal range. No clinical information available. ",
                        "contributionDate": {
                          "date": "2026/7/7",
                          "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": "CA243111/MONDO:0009290/010/ci/CA243111/MONDO:0009290/010.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/0/1633/1635",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/1/1634",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/0/1633",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243111/MONDO:0009290/010/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243111/MONDO:0009290/010/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                  "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/7",
                  "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/CA243111/MONDO:0009290/010/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA243111/MONDO:0009290/010/ci/CA243111/MONDO:0009290/010.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "The highest population minor allele frequency in gnomAD v4.1.0. is 0.0004172 (38/91082 alleles)\nin the South Asian population. This is lower than the ClinGen Lysosomal Diseases VCEP’s threshold for\nPM2_Supporting (<0.001), meeting this criterion (PM2_Supporting).",
                        "contributionDate": {
                          "date": "2026/7/7",
                          "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": "CA243111/MONDO:0009290/010/ci/CA243111/MONDO:0009290/010.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243111/MONDO:0009290/010/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA243111/MONDO:0009290/010/ei/1/1685",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                  "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/7",
                  "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/CA243111/MONDO:0009290/010/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA243111/MONDO:0009290/010/ci/CA243111/MONDO:0009290/010.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50009_EP157972030954718",
                          "id": "CG-PCER-AGENT:CG_50009_EP157972030954718",
                          "type": "Agent"
                        },
                        "comments": "The computational splicing predictor SpliceAI gives a score of 0.01 for acceptor gain\nsuggesting that the variant has no impact on splicing (BP4).",
                        "contributionDate": {
                          "date": "2026/7/7",
                          "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": "CA243111/MONDO:0009290/010/ci/CA243111/MONDO:0009290/010.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA243111/MONDO:0009290/010",
    "metadata": {
      "created": "2026-07-07T20:35:04.215Z",
      "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, 07 Jul 2026 20:35:04 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.1.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "4066d189-e5a2-4f99-82a1-3913da100053",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA243111",
      "id": "CAR:CA243111",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000152.5:c.615G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000152.5(GAA):c.615G>A (p.Pro205=)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T17:16:58.705Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}