RDH5 and Friedreich ataxia: The novel RDH5 gene variant c.814_815del (p.Leu272Aspfs∗63), while not reported in the literature in individuals with FA, was presumed to be pathogenic by the Invitae Genetic Testing Laboratory, given that this variant disrupts the C-terminus of the RDH5 protein—a region disrupted by other variants reported in association with FA.