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This variant is causative for Benign Familial Hematuria (thin membrane basement disease). While this variant is benign, it is useful in differentiating glomerular hematuria from Alport Syndrome.
Insufficiently evaluated benign
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
In the literature this variant was found associated with the phenotype in 3 symptomatic and one possibly symptomatic individual.
Edited in this revision:
Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J. Mutations
in the COL4A4 gene in thin basement membrane disease. Kidney Int. 2003
Feb;63(2):447-53. PubMed PMID: 12631110.
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.
Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J. COL4A3 mutations and their
clinical consequences in thin basement membrane nephropathy (TBMN). Kidney Int.
2004 Mar;65(3):786-90. PubMed PMID: 14871398.