Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre of Medical Genetics, |
RCV001030819 | SCV001190331 | likely pathogenic | Brugada syndrome | 2019-07-31 | no assertion criteria provided | research | p.Phe1571Leu variant was identified in a severe compound heterozygous mutation carrier together with c.4813+3_4813+6dupGGGT variant. The patient was diagnosed with Brugada syndrome, initially presenting sick sinus syndrome and junctional escape. Performed in vitro functional studies indicated reduction in availability of the channel protein due to hyperpolarizing shift in voltage dependence of channel inactivation, which explained severity of the phenotype in this case. |