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. Author manuscript; available in PMC: 2016 May 1.
Published in final edited form as: Semin Nephrol. 2015 May;35(3):212–221. doi: 10.1016/j.semnephrol.2015.04.002

Table 3.

Potential challenges in making the diagnosis of a monogenic form of NS from sequence data

Identifying NS subjects who have bona fide monogenic forms of the condition can improve the precision of clinical management. However, a number of factors contribute to the challenges of both classifying rare variants identified as truly deleterious and, if so, predicting the consequences of their presence.

  • Lack of functional testing in model systems of most missense variants

  • Imperfect in silico pathogenicity pipelines

  • Variable expressivity of pathogenic mutations

  • Interpreting pathogenicity of variants in NS subjects who are not steroid resistant

  • Inheritance of recessive NS only with certain combinations of two pathogenic mutations