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{ "@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/CA229673/MONDO:0009861/006/el/0/1831/1833", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA229673/MONDO:0009861/006/ci/EV000001359", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "34 PKU patients in the Netherlands. Classified as PKU when serum Phe was > 600 umol/l before treatment and when other causes of HPA had been ruled out. Proband 10: C217G;P281L, PKU phenotype.", "contributionDate": { "date": "2021/9/19", "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": "CA229673/MONDO:0009861/006/ci/EV000001359", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/8807319", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA229673/MONDO:0009861/006/ci/EV000000056", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "179 patients (78 male and 91 female) of the Andalusian community whose cut-off value for phenylalanine is 180 mM. C217G found in 2 patients. 1 patient had Mild PKU (Phe between 300–600mM, tolerance 600–800mg per day).", "contributionDate": { "date": "2021/9/19", "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": "CA229673/MONDO:0009861/006/ci/EV000000056", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23514811", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA229673/MONDO:0009861/006/0/1831/1833", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA229673/MONDO:0009861/006/1/1832", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA229673/MONDO:0009861/006/0/1831", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229673/MONDO:0009861/006/el/0/1651", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA229673/MONDO:0009861/006/ei/1/1652", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "contributionDate": { "date": "2021/9/19", "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/CA229673/MONDO:0009861/006/el/0/1651/1653", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA229673/MONDO:0009861/006/ci/EV000001359", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "C217G in trans with P281L in PKU patient. P281L is classified as pathogenic ClinVar (VarID 589)", "contributionDate": { "date": "2021/9/19", "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": "CA229673/MONDO:0009861/006/ci/EV000001359", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/8807319", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA229673/MONDO:0009861/006/ci/EV000000056", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "C217G found in trans with IVS10-11g>a in patient with mild PKU. (VarID 607, Pathogenic in ClinVar)", "contributionDate": { "date": "2021/9/19", "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": "CA229673/MONDO:0009861/006/ci/EV000000056", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23514811", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA229673/MONDO:0009861/006/0/1651/1653", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA229673/MONDO:0009861/006/1/1652", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA229673/MONDO:0009861/006/0/1651", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA229673/MONDO:0009861/006", "metadata": { "created": "2024-09-27T22:23:10.152Z", "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 22:23:10 -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": "de77af67-a3ab-40f2-b946-61129a7d7e8f", "variant": { "@id": "https://reg.genome.network/allele/CA229673", "id": "CAR:CA229673", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000277.1:c.649T>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000277.1(PAH):c.649T>G (p.Cys217Gly)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-04-12T13:46:40.844Z" } }, "status": { "code": 200, "name": "OK" } }