In a proband with proteinuric renal disease, we found 2 variants in NPHP3, which is known to cause nephronophthisis.37 These were a nonsense variant in exon 18 (ENST00000337 331.10:c.2563C>T p.(Gln855Ter) g.132691199G>A; GRCh 38; chr3), reported to be pathogenic in ClinVar with multiple submitters (variation ID:571559), and an intronic variant (ENST00000337331.10:c.3570+5G>A; g.132684549C>T; GRCh38; chr3) 5 bp from the splice donor site of exon 24. The gene discussed is NPHP3; the disease is nephronophthisis.