ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.4772G>A (p.Trp1591Ter) (rs863225273)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000201896 SCV000256663 pathogenic Brugada syndrome 2015-07-01 criteria provided, single submitter research The SCN5A Trp1591* variant was identified in our proband (an Asian male with Brugada syndrome). The proband presented with multiple syncopal episodes and was found to have spontaneous type 1 Brugada pattern. The SCN5A Trp1591* variant is absent from both the 1000 genomes project (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). The variant was identified in 1 unrelated individual with Brugada syndrome in an international consortium of SCN5A mutations (Kapplinger J. et al., 2010). Loss-of-function in SCN5A is well established as a mechanism of disease in Brugada syndrome (Baroudi G. et al., 2004). Therefore, we have classified this variant as "pathogenic".

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