Using a next generation sequencing (NGS) approach targeting exons and exon–intron boundaries, genetic investigations for RTD revealed a never‐reported likely pathogenic heterozygous missense variant in SLC52A3 gene c.113G > C (see Table 1 for in silico data), classified as a variant of unknown significance type 4 (VUS 4). Here, SLC52A3 is linked to renal tubular dysgenesis of genetic origin.