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(PMID 28475857)", "contributionDate": { "date": "2026/6/8", "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": "CA377784538/MONDO:0017623/003/ci/CA377784538/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA377784538/MONDO:0017623/003/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA377784538/MONDO:0017623/003/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA377784538/MONDO:0017623/003/0/1663", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA377784538/MONDO:0017623/003/el/0/1699", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA377784538/MONDO:0017623/003/ei/1/1700", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "contributionDate": { "date": "2026/6/8", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA377784538/MONDO:0017623/003/el/0/1699/1701", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA377784538/MONDO:0017623/003/ci/CA377784538/MONDO:0017623/003.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50012_EP15519033251287", "id": "CG-PCER-AGENT:CG_50012_EP15519033251287", "type": "Agent" }, "comments": "Case 1 (PMID: 19265751): Two year old female who presented with developmental delay, oral motor and speech delay, and macrocephaly (OFC of 54.5 cm (+5.0 S.D.)). History of bilateral hernia repair at one month of age, mild GE reflux, and benign macrocrania diagnosed at age 2 after having a normal CT scan. Large café au lait spot on her left lower chest and upper abdomen. +5 Pediatric phenotype score, +1 proband point\nCase 2 (PMID: 24375884): 10 m old M, macrocephaly (>> 2SD), mild motor delay, Physical exam: mild frontal bossing, MRI: Posterior periventricular multifocal white matter abnormalities, Enlarged perivascular spaces with CSF isointense signal. +6 pediatric phenotype points, +1 proband point.\nCase 3 (PMID: 28526761): Pediatric female patient presented with macrocephaly (+7SD), ASD, developmental delay, cafe au lait spot, and MRI finding of heterotopia. +7 pediatric phenptype points, +1 proband point.", "contributionDate": { "date": "2026/6/8", "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": "CA377784538/MONDO:0017623/003/ci/CA377784538/MONDO:0017623/003.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA377784538/MONDO:0017623/003/0/1699/1701", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA377784538/MONDO:0017623/003/1/1700", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA377784538/MONDO:0017623/003/0/1699", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA377784538/MONDO:0017623/003", "metadata": { "created": "2026-06-08T20:34:33.469Z", "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": "Mon, 08 Jun 2026 20:34:33 -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": "0cca48d0-e46c-4b58-b93d-f7a1f6a45afa", "variant": { "@id": "https://reg.genome.network/allele/CA377784538", "id": "CAR:CA377784538", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000314.8:c.131G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000314.8(PTEN):c.131G>A (p.Gly44Asp)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-31T10:55:27.424Z" } }, "status": { "code": 200, "name": "OK" } }