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Article

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.

Annals of laboratory medicine - 1 May 2024

Kim Seo Wan, Kim Boyeon, Kim Yoonjung, Lee Kyung-A

Abstract excerpt

Background: Marfan syndrome (MFS) is caused by fibrillin-1 gene (FBN1) variants. Mutational hotspots and/or well-established critical functional domains of FBN1 include cysteine residues, calcium-binding consensus sequences, and amino acids related to interdomain packaging. Previous guidelines for variant interpretation do not reflect the features of genes or related diseases. Using the Clinical Genome Resource...

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Identifiers

PMID: 37840311
DOI: 10.3343/alm.2023.0152
PMCID: PMC10813823

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Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.PMID 37840311Read ↗

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