ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu)

gnomAD frequency: 0.00001  dbSNP: rs1369632373
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp 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.

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