ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.481G>A (p.Glu161Lys) (rs199473062)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058710 SCV000545051 pathogenic Brugada syndrome 2016-10-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 161 of the SCN5A protein (p.Glu161Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs199473062, ExAC <0.01%). This variant has been reported to segregate with disease in two families affected with Brugada syndrome (PMID: 15910881), and described in several other affected unrelated individuals (PMID: 20031634, 21273195). Experimental studies have shown that this missense change reduces the current density of the channel (PMID: 20539757, 15910881). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000987240 SCV001136490 uncertain significance Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058710 SCV000090230 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:12106943;PMID:15910881;PMID:20129283;PMID:20384651;PMID:20448214;PMID:20539757;PMID:19251209). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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