The increasing availability of sequencing has accelerated the discovery of genetic causes of kidney disease, with clear benefits for patients. However, insufficient or contradictory evidence exists for numerous variants that were previously reported to be pathogenic, calling into question some proposed gene–disease associations. Rigorous re-appraisal of evidence is needed to ensure diagnostic accuracy.
Access options
Subscribe to Journal
Get full journal access for 1 year
$209.00
only $17.42 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
from$8.99
All prices are NET prices.
References
- 1.
MacArthur, D. G. et al. Nature 508, 469–476 (2014).
- 2.
Richards, S. et al. Genet. Med. 17, 405–424 (2015).
- 3.
Brnich, S. E. et al. Genome Med. 12, 3 (2019).
- 4.
Sampson, M. G. et al. J. Am Soc. Nephrol. 27, 1970–1983 (2016).
- 5.
Karim, Z. et al. N. Engl. J. Med. 359, 1128–1135 (2008).
- 6.
Ashton, E. & Bockenhauer, D. Kidney Int. 97, 455–457 (2020).
- 7.
Thompson, W. C. & Schumann, E. L. Law Human Behav. 11, 167–187 (1987).
- 8.
Strande, N. T. et al. Am. J. Hum. Genet. 100, 895–906 (2017).
- 9.
Levine, A. P. et al. J. Am. Soc. Nephrol. 31, 365–373 (2020).
- 10.
Rehm, H. L. et al. N. Engl. J. Med. 372, 2235–2242 (2015).
Author information
Affiliations
Corresponding authors
Ethics declarations
Competing interests
The authors declare no competing interests.
Additional information
RELATED LINKS
Clinical Genome Resource: https://clinicalgenome.org
Supplementary Information
Rights and permissions
About this article
Cite this article
Gale, D.P., Mallett, A., Patel, C. et al. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol 16, 616–618 (2020). https://doi.org/10.1038/s41581-020-0277-6
Published:
Issue Date:
Further reading
-
Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood
Pediatric Nephrology (2020)
