rs1487680236

Description

The R816X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R816X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The R816X nonsense variant is predicted to cause loss of normal protein function through protein truncation, as the last 54 amino acids of the MUSK protein are lost. However, other truncating variants downstream of this position have not been reported in the MUSK gene in association with MUSK-related disorders (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.