RYR3 was first reported in relation to autosomal recessive congenital myopathy in 2018 (Nilipour et al., 2018; PMID 29498452). To date, the two unique missense variants described in a single affected individual in this initial report are the only variants associated with RYR3 and autosomal recessive congenital myopathy and the impact of these variants on protein function is unclear. Some functional evidence supporting this gene-disease relationship exists, including protein expression data (PMID: 29498452) and functional alteration data from ryr3 knockout mice (PMIDs: 9384575 and 17412417) and RyR3-depleted zebrafish (PMID: 25667412). In summary, no convincing evidence for a causal role for *
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