The D21 OBSCN mutation is considered not disease-causing since the affected amino-acid is not conserved between species and the mutation is present in control populations; moreover, this sample also contains the SCN5A mutation p.S216L, which has been linked to Brugada syndrome[21] and may be a more likely cause of the end-stage heart failure in this patient. The gene discussed is OBSCN; the disease is Brugada syndrome.