ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.6043G>A (p.Val2015Met) (rs762981322)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465160 SCV000545054 uncertain significance Brugada syndrome 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 2016 of the SCN5A protein (p.Val2016Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs762981322, ExAC 0.03%). This variant has been reported in an individual affected with Brugada syndrome (PMID: 24895455) and an individual affected with sinus node dysfunction (PMID: 26282245). ClinVar contains an entry for this variant (Variation ID: 201549). Experimental studies have shown that this missense change has a deleterious effect on SCN5A activity (PMID: 24895455, 26282245). 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.

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