ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.5092G>A (p.Ala1698Thr) (rs199473295)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497811 SCV000589383 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing The A1698T variant of uncertain significance in the SCN5A gene has been reported previously in one individual with suspected Brugada syndrome, although specific clinical details were not provided (Kapplinger et al., 2010). A1698T is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A1698T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, this substitution occurs at a position where only amino acids with similar properties to alanine are tolerated across species. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058738 SCV000090258 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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