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"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/CA891862634/MONDO:0009861/006/el/0/1651/1653", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA891862634/MONDO:0009861/006/ci/EV000000064", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "The variant has been previously reported in trans with the known pathogenic L48S allele in 1 Israeli case with classic PKU (PMID: 18299955; PMID: 18294361) as assessed by plasma Phe levels; BH4 deficiency was excluded.", "contributionDate": { "date": "2019/8/16", "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": "CA891862634/MONDO:0009861/006/ci/EV000000064", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/18299955", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA891862634/MONDO:0009861/006/ci/EV000000018", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "It was also noted in 3 Turkish probands: in two, it was found in trans with the p.R243X allele, and in one, it was found in trans with the p.R261Q allele (PMID: 21147011); all three cases had classic as assessed by plasma Phe levels and BH4 deficiency was excluded by genetic testing.", "contributionDate": { "date": "2019/8/16", "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": "CA891862634/MONDO:0009861/006/ci/EV000000018", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/21147011", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA891862634/MONDO:0009861/006/0/1651/1653", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA891862634/MONDO:0009861/006/1/1652", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA891862634/MONDO:0009861/006/0/1651", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA891862634/MONDO:0009861/006", "metadata": { "created": "2024-09-27T19:59:58.744Z", "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 19:59:58 -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": "c7b4b798-e2b4-431a-bd0d-2d7c903d2c57", "variant": { "@id": "https://reg.genome.network/allele/CA891862634", "id": "CAR:CA891862634", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000277.1:c.47_48insCT" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000277.1:c.47_48insCT" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-06T00:11:48.855Z" } }, "status": { "code": 200, "name": "OK" } }