ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.1237G>A (p.Ala413Thr) (rs199473110)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697401 SCV000826009 uncertain significance Brugada syndrome 2019-10-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 413 of the SCN5A protein (p.Ala413Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs199473110, ExAC 0.01%). This variant has been reported in an individual affected with long QT syndrome (PMID: 16414944). ClinVar contains an entry for this variant (Variation ID: 67652). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). A different missense substitution at this codon (p.Ala413Glu) has been reported in an individual with long QT syndrome (PMID: 16414944). 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 RCV001181560 SCV001346734 uncertain significance Arrhythmia 2018-11-26 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058409 SCV000089929 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:16414944). 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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