ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.2701G>A (p.Glu901Lys) (rs199473174)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058521 SCV001374175 uncertain significance Brugada syndrome 2019-09-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 901 of the SCN5A protein (p.Glu901Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of Brugada syndrome (PMID: 22984773, 20129283, Invitae). ClinVar contains an entry for this variant (Variation ID: 67752). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058521 SCV000090041 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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