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"label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@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/CA229785/MONDO:0009861/006/el/0/1831/1833", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA229785/MONDO:0009861/006/ci/EV000000019", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "A total of 121 Northern Irish families with HPA (111 with PKU and 10 with MHP) were investigated, including virtually all patients born after 1972. dihydrobiopterin reductase deficiency was excluded. S273F was seen on 3 alleles.", "contributionDate": { "date": "2019/4/6", "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": "CA229785/MONDO:0009861/006/ci/EV000000019", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/8533759", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA229785/MONDO:0009861/006/ci/EV000000033", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "One hundred and eleven patients, including seven families with two or more affected individuals, were recruited from the records of the NSW Newborn Screening Programme or from the PKU Clinic at the Children’s Hospital at Westmead, Sydney Australia. p.S273F was detected in 2 patients.", "contributionDate": { "date": "2019/4/6", "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": "CA229785/MONDO:0009861/006/ci/EV000000033", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24368688", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA229785/MONDO:0009861/006/ci/EV000000036", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "The five patients reported here were born either in Belgium (four patients) or in north eastern France (one patient). All five children were diagnosed through systematic newborn screening programmes and met the criteria for typical PKU (low tolerance for dietary phenylalanine, averaging 250 mg/day). The abolition of an invariant BamHI site located in the coding sequence of the PAH gene (exon 7) led to the recognition of two new point mutations at codon 272 and 273 (272gly----stop and 273ser----phe, respectively).", "contributionDate": { "date": "2019/4/6", "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": "CA229785/MONDO:0009861/006/ci/EV000000036", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/1671881", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA229785/MONDO:0009861/006/ci/EV000000003", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "PKU patients from four centers in three countries of Great Britain were studied. S273F was detected on 2 Western Scotland alleles.", "contributionDate": { "date": "2019/4/6", "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": "CA229785/MONDO:0009861/006/ci/EV000000003", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/9012412", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA229785/MONDO:0009861/006/0/1831/1833", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA229785/MONDO:0009861/006/1/1832", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA229785/MONDO:0009861/006/0/1831", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA229785/MONDO:0009861/006", "metadata": { "created": "2024-09-27T19:40:40.606Z", "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 19:40:40 -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": "75b9eddc-e554-4f4c-91a7-976ac6c27ba2", "variant": { "@id": "https://reg.genome.network/allele/CA229785", "id": "CAR:CA229785", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000277.2:c.818C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000277.2(PAH):c.818C>T (p.Ser273Phe)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-28T22:11:00.837Z" } }, "status": { "code": 200, "name": "OK" } }