title: Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome.
abstract: Mutations in complement proteins predispose to atypical hemolytic uremic syndrome (aHUS). Mutation screening in aHUS is challenging, because most of the disease-associated mutations are individually rare, and a significant proportion of variants consist of missense mutations of unknown significance. The definitive interpretation of a variant of unknown significance (VUS) is often dependent on a reliable functional assay too time-consuming to be used in a diagnostic screening service. Allied research groups have analyzed these VUSs in aHUS.
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. david.kavanagh@ncl.ac.uk
authors.forename: David
authors.initials: D
authors.lastname: Kavanagh
authors.forename: Holly E
authors.initials: HE
authors.lastname: Anderson
mesh_terms: D065766:Atypical Hemolytic Uremic Syndrome; D017242:Complement Factor H / Q000235:genetics; D014644:Genetic Variation; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H