ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.3338C>T (p.Ala1113Val) (rs199473194)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058565 SCV000760270 uncertain significance Brugada syndrome 2017-12-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1113 of the SCN5A protein (p.Ala1113Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs199473194, ExAC 0.02%). This variant has been reported in the literature in an individual with Brugada syndrome or referred for Brugada syndrome testing (PMID: 20129283, 25904541). ClinVar contains an entry for this variant (Variation ID: 67791). Experimental studies have shown that this missense change does not causes a significant reduction in sodium current (PMID: 24573164). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Color RCV001183552 SCV001349315 uncertain significance Arrhythmia 2018-12-11 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058565 SCV000090085 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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