Rare variants in the KCNQ1 gene are found in the healthy population to a much greater extent than the prevalence of Long QT Syndrome type 1 (LQTS1). This observation creates challenges in the interpretation of KCNQ1 rare variants that may be identified as secondary findings in whole exome sequencing.This study sought to identify missense variants within sub-domains of the KCNQ1-encoded Kv7.1 potassium channel that would be highly predictive of disease in the context of secondary findings.
Reference: Enhancing the Interpretation of Genetic Observations in KCNQ1 in Unselected Populations: Relevance to Secondary Findings.
Novelli V, Faultless T, Cerrone M, Care M, Manzoni M, Bober SL, Adler A, De-Giorgio F, Spears D, Gollob MH. Europace. 2023 Oct 28:euad317.