rs773285595

Description

The N376K variant in the MUSK gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N376K variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N376K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N376K as a variant of uncertain significance.