Two VUS detected in neuromuscular panels - concern?
Hi I (43 year old male) had a comprehensive neuromuscular panel done by invitae (200 genes) and NeuroNavigATTR panel done by Prevention Genetics (100 genes).Got these done because I have been having issues with my feet and hands and widespread muscle twitching. Latest testing done in December show normal EMG-NCS study except some nerve compression and clean MRI for calf, but MRI ankle shows mild tendinopathy for achilles and PT, and also mild plantar fasciitis...but symptoms change and persist.
I'm concerned about CMT2U from my mutation in the MARS1 gene and Laing Distal Myopathy from my mutation in the MYH7 gene (also people with hypertrophic cardiomyopathy) have it as well (these conditions are autosomal dominant). These are both classified as VUS. Rare variants, 0.009% for the MYH7 mutation and 0.0058% in a latino population.
For the experts, can you comment on is this - whether this is something that could be troublesome or otherwise likely benign. Both my parents have no health issues.
ala261val mutation in MARS
https://www.ncbi.nlm.nih.gov/clinvar/variation/1681702/?term=1681702%5BVariation+ID%5
cys1748tyr mutation in MYH7
Posted Feb 15, 2026, 8:44 PM UTC