Arrhythmias & electrophysiology
Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series
Authors' conclusion
Whole-exome molecular autopsy with gene-specific surveillance is an effective approach for the detection of potential pathogenic variants in SUDY cases.
Study context
- Population
- Sudden unexplained death in the young (SUDY), age 1–40 years, Cook County, Illinois, 2012–201313 white, 12 black
- Participants
- 25 participants
- Exposure
- Autopsy-negative vs Equivocal autopsy
- Autopsy-negativen = 16
- Equivocal autopsyn = 9
- Outcome
- Ultrarare nonsynonymous and pathogenic/likely pathogenic variants
Methodological detailspostmortem genetic testing study, consecutive cases, whole-exome molecular autopsy, 99 sudden death-susceptibility genes, ACMG variant classification
- Postmortem genetic testing study
- Consecutive cases
- Whole-exome molecular autopsy
- 99 sudden death-susceptibility genes
- ACMG variant classification
Main finding
As reported in the abstract
Ultrarare nonsynonymous variants (27 variants)
16 of 25
64%
Pathogenic or likely pathogenic variants (10 of 27, ACMG)
7 of 25
28%
Clinically actionable P/LP variants (6) congruent with autopsy phenotype
4 of 25
16%
Observational data: associations, not effects.
Further findings
Ultrarare nonsynonymous variant, by race
- Black individuals
- 9/12 (75%)
- White individuals
- 7/13 (54%)
Pathogenic/likely pathogenic variants, by autopsy finding
- Autopsy-negative cases
- 5/16 (31%)
- Equivocal findings of cardiomyopathy
- 2/6 (33%)
Original publication
Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series. Circulation. Published 19 June 2018. doi:10.
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