ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3247G>A (p.Gly1083Ser)

gnomAD frequency: 0.00001  dbSNP: rs199473190
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003541451 SCV002183753 uncertain significance not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1084 of the SCN5A protein (p.Gly1084Ser). This variant is present in population databases (rs199473190, gnomAD 0.01%). This missense change has been observed in individual(s) with long QT syndrome and/or sudden infant death syndrome (PMID: 18596570, 32161207). ClinVar contains an entry for this variant (Variation ID: 67786). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies have shown that this missense change affects SCN5A function (PMID: 18596570). 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 RCV002498343 SCV002781030 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 2021-08-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996534 SCV004830281 uncertain significance Brugada syndrome 2023-06-15 criteria provided, single submitter clinical testing This variant has been reported in individuals with Long QT Syndrome/Brugada syndrome but the phenotype is not well described (PMID: 34930020, 32161207, 18596570, 25856671). This variant is present in 2/244388 total alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/).
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058558 SCV000090078 not provided SUDDEN INFANT DEATH SYNDROME no assertion provided literature only This variant has been reported as associated with Sudden infant death syndrome in the following publications (PMID:18596570). 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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