rs752798426

Description

This sequence change creates a premature translational stop signal (p.Arg579*) in the MUSK gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752798426, ExAC 0.01%). This variant has not been reported in the literature in individuals with MUSK-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MUSK are known to be pathogenic (PMID: 25695962, 25900532). For these reasons, this variant has been classified as Pathogenic.