Identification and Pathogenicity Analysis of a Novel Fibrinogen Bβ Chain p.Gly293Val Variant Causing Hypofibrinogenemia

Background: gene. This study aimed to analyze the clinical phenotypes and genetic variants in a family with hypofibrinogenemia and explore its molecular pathogenic mechanisms. Methods: tools, including ClustalX-2.1-win, MutationTaster, PolyPhen-2, PROVEAN, I-Mutant 2.0 and Swiss-Pdb Viewer, were used to assess the conservation of the variation sites and their impact on protein structure and function. The pathogenicity of the variation sites was evaluated according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants. Results: tools. Protein structural modeling indicated local conformational disturbance. The variant was classified as likely pathogenic following the 2015 ACMG/Association for Molecular Pathology (AMP) standard guidelines. Conclusions: p.Gly293Val variant may cause a significant decrease in Fg:C and Fg:Ag by disrupting the structure and function of the Fg protein.