- Mar 2021
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1).
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.5189C>A p.(Pro1730His)