Variants of Unknown Significance in Maturity-Onset Diabetes of the Young: High Rate of Conundrum Resolution via Variants of Unknown Significance Reanalysis
Authors' conclusion
In sum, iterative reanalyzing the genetic data from VUS found during MODY testing may provide high-yield diagnostic information. Further studies are warranted to identify the optimal time and frequency for such analyses.
Study context
- Population
- Subjects with a maturity-onset diabetes of the young (MODY) clinical diagnosis with variants of unknown significance (VUS) on MODY genes from genetic testing performed >3 years before the study14 unique VUS
- Participants
- 10 subjects
- Outcome
- Reclassification of previous VUS results on reanalysis
Methodological detailssingle-centre, retrospective chart review
- Single-centre
- Retrospective chart review
Main finding
As reported in the abstract
VUS reclassified after reanalysis
Reclassified to a different category
43%
6/14
Reclassified as likely pathogenic (HNF1A)
7%
1/14
Reclassified as benign or likely benign (HNF1A, HNF1B, PDX1)
36%
5/14
Median time between MODY testing and reclassification
8 years
range: 4–10 years
Observational data: associations, not effects.
Original publication
Variants of Unknown Significance in Maturity-Onset Diabetes of the Young: High Rate of Conundrum Resolution via Variants of Unknown Significance Reanalysis. Horm Res Paediatr. Published 28 May 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →