Why the study?
Titin truncating variants frequently cause dilated cardiomyopathy, but titin missense and non-frameshifting insertions/deletions remain difficult to assess and interpret in the clinical diagnostic workflow.
Are rare predicted deleterious TTN missense and non-frameshifting insertions/deletions variants independently causative for dilated cardiomyopathy?
Population
530 primary DCM patients from three cardiogenetic centres across Europe
Comparison
Primary DCM patients vs largest available reference population database
Design
Multicentre cohort study
Authors
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Rare TTN missense/NFS-INDEL variants lack enrichment in DCM; leaves open independent causality and supports cautious reclassification pending larger studies.
Are rare predicted deleterious TTN missense and non-frameshifting insertions/deletions variants independently causative for dilated cardiomyopathy?
Rare predicted deleterious TTN missense and non-frameshifting insertion/deletion variants are not independently causative for dilated cardiomyopathy and should be classified as likely benign in clinical diagnostics.
Akinrinade et al. (2019) studied this question.
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