Response by Kapplinger et al to Letter Regarding Article, “Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation”
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We thank the authors for their letter on our publication and wish to address their concerns.
In their letter,1 the authors warn about the addition of new hotspots for predictive purposes, led by the analysis of patients without taking in to account clinical characteristics and familial cosegregation. Importantly, we did not add 13 new exons as they suggest. Rather, we identified 21 exons that hosted a statistical overrepresentation of variants in patients compared with the Exome Aggregation Consortium exomes2; however, only 2 of these exons were identified outside of the previously defined hotspots3 and represent new hotspot exons. Furthermore, only one of these exons was identified using the referral population (exon 43). Therefore, the author’s concern is only relevant to 1 exon. However, we feel the clinical implication for this exon …