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.
This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling
Pediatric Nephrology Open Access 18 June 2021
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
MacArthur, D. G. et al. Nature 508, 469–476 (2014).
Richards, S. et al. Genet. Med. 17, 405–424 (2015).
Brnich, S. E. et al. Genome Med. 12, 3 (2019).
Sampson, M. G. et al. J. Am Soc. Nephrol. 27, 1970–1983 (2016).
Karim, Z. et al. N. Engl. J. Med. 359, 1128–1135 (2008).
Ashton, E. & Bockenhauer, D. Kidney Int. 97, 455–457 (2020).
Thompson, W. C. & Schumann, E. L. Law Human Behav. 11, 167–187 (1987).
Strande, N. T. et al. Am. J. Hum. Genet. 100, 895–906 (2017).
Levine, A. P. et al. J. Am. Soc. Nephrol. 31, 365–373 (2020).
Rehm, H. L. et al. N. Engl. J. Med. 372, 2235–2242 (2015).
Author information
Authors and 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:
DOI: https://doi.org/10.1038/s41581-020-0277-6
This article is cited by
-
Clinical Genetic Testing in Kidney Disease and Transplantation: Logistical, Ethical, Legal, and Social Considerations
Current Transplantation Reports (2023)
-
Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?
Pediatric Nephrology (2023)
-
Ascertaining pathogenicity of genetic variants: caution required
Pediatric Nephrology (2023)
-
A practical approach to the genomics of kidney disorders
Pediatric Nephrology (2022)
-
A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights
Pediatric Nephrology (2022)