Our observation that a loss‐of‐function variant of TRPV4 is not behind the proband's osteopenia is determined and supports the hypothesis that increased uptake of Ca2+ is a generator of skeletal dysplasia, which taken together with the protein informatics and modeling, we find it plausibly likely that NC_000012.12:c.2401A>G (p.K801E) is a gain‐of‐function variant of TRPV4. The structural models of these two variants concur with previous clinical data. This evidence concerns the gene TRPV4 and skeletal dysplasia.