ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.4744C>T (p.Arg1582Cys) (rs45514691)

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Total submissions: 4
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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 RCV000058701 SCV000090221 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.
Institute of Human Genetics,University of Wuerzburg RCV000850283 SCV000992458 likely pathogenic Arrhythmia no assertion criteria provided clinical testing
Invitae RCV000058701 SCV000545079 uncertain significance Brugada syndrome 2018-12-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1583 of the SCN5A protein (p.Arg1583Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (rs45514691, ExAC no frequency). This variant has been reported in individuals affected with Brugada syndrome (PMID: 20129283, 25650408). ClinVar contains an entry for this variant (Variation ID: 67920). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154836 SCV000204518 uncertain significance not specified 2018-09-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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