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Variant interpretation in molecular autopsy: a useful dilemma
- Source :
- International Journal of Legal Medicine. 136:475-482
- Publication Year :
- 2022
- Publisher :
- Springer Science and Business Media LLC, 2022.
-
Abstract
- Sudden cardiac death (SCD) in adolescents and young adults may be the first manifestation of an inherited arrhythmic syndrome. Thus identification of a genetic origin in sudden death cases deemed inconclusive after a comprehensive autopsy and may help to reduce the risk of lethal episodes in the remaining family. Using next-generation sequencing (NGS), a large number of variants of unknown significance (VUS) are detected. In the majority of cases, there is insufficient evidence of pathogenicity, representing a huge dilemma in current genetic investigations. Misinterpretation of such variants may lead to inaccurate genetic diagnoses and/or the adoption of unnecessary and/or inappropriate therapeutic approaches. In our study, we applied current (ACMG) recommendations for variant classification in post-mortem genetic screening of a cohort of 56 SCD victims. We identified a total 53 rare protein-altering variants (MAF
- Subjects :
- Pathology and Forensic Medicine
Subjects
Details
- ISSN :
- 14371596 and 09379827
- Volume :
- 136
- Database :
- OpenAIRE
- Journal :
- International Journal of Legal Medicine
- Accession number :
- edsair.doi...........0c90690667f1f7db72e01b8151ec688d