rs886041200

Description

The Y443X pathogenic variant in the FGD4 gene has been reported in association with Charcot-Marie-Tooth disease (Antoniadi et al. 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y443X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y443X as a pathogenic variant.