ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.3080G>A (p.Arg1027Gln) (rs763891399)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000624440 SCV000740417 uncertain significance not specified 2016-06-22 criteria provided, single submitter clinical testing
Invitae RCV000691183 SCV000818929 uncertain significance Brugada syndrome 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1027 of the SCN5A protein (p.Arg1027Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs763891399, ExAC 0.01%). This variant has been observed in an individual affected with or referred for long QT syndrome genetic testing (PMID: 25904541) and in an individual with sudden infant death syndrome (PMID: 17210841). ClinVar contains an entry for this variant (Variation ID: 520458). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000765737 SCV000897105 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
Color Health, Inc RCV001176524 SCV001340537 uncertain significance Arrhythmia 2020-10-27 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1027 of the SCN5A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with Brugada syndrome or long QT syndrome (PMID: 1309946, 25904541). This variant has been identified in 14/276396 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx RCV001569679 SCV001793806 likely benign not provided 2015-03-03 no assertion criteria provided clinical testing

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