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G21: I65T/IVS10nt-11; G62: I65T/R252W; F38: I65T/I65T; F27: I65T/R243Q.", "contributionDate": { "date": "2025/12/31", "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": "CA251544/MONDO:0009861/006/ci/EV000000040", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/10767174", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA251544/MONDO:0009861/006/ci/EV000000039", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "Patient 24 Genotype: I65T/Y414C", "contributionDate": { "date": "2025/12/31", "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": "CA251544/MONDO:0009861/006/ci/EV000000039", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12501224", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA251544/MONDO:0009861/006/ci/EV000000038", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "We amplified and sequenced exon 3 from a PKU proband harboring the R408W allele on the other chromosome (see John et al., 1990, family #6). We identified a T to C transition in codon 65 (Fig. 1A). This substitution changes an isoleucine codon (ATT) to one for threonine (ACT); no other changes were found in the entire coding region or in the exon intron boundaries of the PAH gene. 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We identified a T to C transition in codon 65 (Fig. 1A). This substitution changes an isoleucine codon (ATT) to one for threonine (ACT); no other changes were found in the entire coding region or in the exon intron boundaries of the PAH gene. The I65T mutation, segregated with this haplotype in the nuclear family (Fig. 1B).", "contributionDate": { "date": "2019/4/8", "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": "CA251544/MONDO:0009861/006/ci/EV000000038", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/1301201", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA251544/MONDO:0009861/006/ci/EV000000040", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50015_EP155190578201949", "id": "CG-PCER-AGENT:CG_50015_EP155190578201949", "type": "Agent" }, "comments": "F13 and G3: I65T/P281L; G21: I65T/IVS10nt-11; G62: I65T/R252W; F38: I65T/I65T; F27: I65T/R243Q.", "contributionDate": { "date": "2019/4/8", "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": "CA251544/MONDO:0009861/006/ci/EV000000040", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/10767174", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA251544/MONDO:0009861/006/0/1669/1671", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA251544/MONDO:0009861/006/1/1670", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA251544/MONDO:0009861/006/0/1669", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA251544/MONDO:0009861/006", "metadata": { "created": "2024-09-27T19:40:41.655Z", "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 19:40:41 -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": "633ef5e6-95c8-4ff5-88b2-6cf22b99158b", "variant": { "@id": "https://reg.genome.network/allele/CA251544", "id": "CAR:CA251544", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000277.2:c.194T>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000277.2(PAH):c.194T>C (p.Ile65Thr)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-04-04T23:18:06.147Z" } }, "status": { "code": 200, "name": "OK" } }