These rare single nucleotide variants have been previously associated with dominant limb-girdle muscular dystrophy (Emery-Dreifuss muscular dystrophy 2) (Brown et al., 2016; Kitaguchi et al., 2001) and partial lipodystrophy (Shackleton et al., 2000), and reported to affect lamin A/C function by in vitro studies (Anderson et al., 2021; Simon et al., 2013). The gene discussed is LMNA; the disease is partial lipodystrophy.