ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1652C>T (p.Ala551Val) (rs201641342)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171573 SCV000055304 uncertain significance Brugada syndrome 2018-04-05 criteria provided, single submitter research
Invitae RCV000171573 SCV000760237 uncertain significance Brugada syndrome 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 551 of the SCN5A protein (p.Ala551Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs201641342, ExAC 0.02%). This variant has not been reported in the literature in individuals with SCN5A-related disease. ClinVar contains an entry for this variant (Variation ID: 191381). Experimental studies have shown that this missense change decreases the current density of the SCN5A channel (PMID: 19706159). 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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