Patient 23 was a 20-year-old woman with a variant c.517G>A (p.Gly173Arg) in COL1A1. Varsome determined this variant as VUS, but in LOVD, it was described as potentially pathogenic in a patient with suspected hypophosphatasia (patient with clinical symptoms but without pathogenic variants in ALPL gene) [9]. This evidence concerns the gene ALPL and hypophosphatasia.