Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Jaël S CopierMarianne BootsmaChai A NgArthur A M WildeRobin A BertelsHennie BikkerImke ChristiaansSaskia N van der CrabbenJanna A HolTamara T KoopmannJeroen KnijnenburgAafke A J LommerseJasper J van der SmagtConnie R BezzinaJamie I VandenbergArie O VerkerkDaniela Q C M Barge-SchaapveldElisabeth M LodderPublished in: Human molecular genetics (2022)
The reduced current density in the KCNH2-p.S906L-Hz indicates a moderate loss-of-function. Combined with the reduced penetrance and variable phenotype, we conclude that KCNH2:p.(Ser906Leu) is a low penetrant likely pathogenic variant for LQTS2.
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