rs752612218

Description

This sequence change results in a premature translational stop signal in the FGD4 gene (p.Glu765*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the FGD4 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FGD4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.