ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln)

dbSNP: rs199473325
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003539785 SCV000936675 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1901 of the SCN5A protein (p.Glu1901Gln). This variant is present in population databases (rs199473325, gnomAD 0.03%). This missense change has been observed in individual(s) with long QT syndrome (PMID: 19716085). ClinVar contains an entry for this variant (Variation ID: 68007). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects SCN5A function (PMID: 28087622). 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 RCV002490662 SCV002777284 uncertain significance Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2021-08-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996551 SCV004827130 uncertain significance Cardiac arrhythmia 2023-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017382 SCV004849283 uncertain significance Cardiovascular phenotype 2018-07-11 criteria provided, single submitter clinical testing The c.5701G>C (p.E1901Q) alteration is located in exon 28 (coding exon 27) of the SCN5A gene. This alteration results from a G to C substitution at nucleotide position 5701, causing the glutamic acid (E) at amino acid position 1901 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058801 SCV000090321 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:19716085). 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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