ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.5812G>A (p.Glu1938Lys) (rs199473329)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058808 SCV000291825 uncertain significance Brugada syndrome 2019-11-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1938 of the SCN5A protein (p.Glu1938Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs199473329, ExAC 0.009%). This variant has been reported in the literature in one patient affected with Brugada syndrome (PMID: 20129283). ClinVar contains an entry for this variant (Variation ID: 68012). Experimental studies have shown that this missense change, when expressed in heterozygosity, reduces the sodium current density in vitro (PMID: 24573764). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058808 SCV000090328 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:20129283). 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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