In a screen for mutations in COL4A4 in 48 patients (of all ethnicities) with Thin Membrane Basement Disease, this variant was seen in 2 individuals. These patients were confirmed to not have Alport Syndrome. This variant was seen in 1/48 controls who did not have a renal biopsy, so they may not be actual controls. Glycine mutations in type IV collagen chains are often pathogenic, and pathogenicity cannot be excluded. The authors classify this as p. pathogenic. OR=2.