Subsequent re-analysis of the sequencing data detected the NM_000091.4: c.3182 G>A; p.(Gly1061Asp), variant of uncertain significance (VUS) in COL4A3 (HGNC:2204), a gene associated with recessive and dominant forms of Alport syndrome (MIM 203780 and 104200). Here, COL4A3 is linked to Alport syndrome.