In Reply to ‘Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant’

We thank Dr Tory for his letter1 in which he emphasizes the importance of detailed analyses of NPHS2 variants in exons 7 and 8. In the section "Genetics of NPHS2" in our article, we include a word of caution stating that there is strong evidence that the R229Q variant is pathogenic when associated in trans with specific variants in exon 7 or 8.2 We regret that we did not include the word "specific" again in our conclusion.

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