ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val) (rs371194826)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706860 SCV000835934 uncertain significance Brugada syndrome 2018-07-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1932 of the SCN5A protein (p.Ala1932Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs371194826, ExAC 0.07%). This variant has not been reported in the literature in individuals with SCN5A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional 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.
Fulgent Genetics,Fulgent Genetics RCV000764501 SCV000895572 uncertain significance Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1, autosomal recessive; Progressive familial heart block, type 1A; Paroxysmal familial ventricular fibrillation 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2018-10-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852962 SCV000995711 likely benign Primary dilated cardiomyopathy 2019-05-08 criteria provided, single submitter clinical testing
Color Health, Inc RCV001176311 SCV001340230 uncertain significance Arrhythmia 2019-09-17 criteria provided, single submitter clinical testing

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