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Article

Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.

European journal of human genetics : EJHG - 1 May 2025

Shin Ju Hyeon, Kim Young-Gon, Jang Shin Yi, Huh June, Kim Duk-Kyung, Kim Jong-Won, Jang Ja-Hyun, Park Taek Kyu, Jang Mi-Ae

Abstract excerpt

Marfan syndrome (MFS) is a genetic disorder caused by an FBN1 variant and is diagnosed based on the revised Ghent criteria, which incorporate clinical manifestations and genetic testing. Up-to-date FBN1 variant interpretation is crucial for proper diagnosis and management of MFS; however, some FBN1 variants of uncertain significance (VUSs) remain inconclusive despite applying Clinical Genome Resource (ClinGen)...

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Identifiers

PMID: 40169830
DOI: 10.1038/s41431-025-01826-9
PMCID: PMC12048594

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FBN1

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