ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.210T>G (p.Asn70Lys) (rs199473050)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058481 SCV000090001 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.
Invitae RCV000058481 SCV000955020 uncertain significance Brugada syndrome 2018-10-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 70 of the SCN5A protein (p.Asn70Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs199473050, ExAC 0.009%). This variant has been observed in an individual referred for Brugada syndrome testing (PMID: 20129283). ClinVar contains an entry for this variant (Variation ID: 67714). Experimental studies have shown that this missense change decreases sodium current density (PMID: 24573164). 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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