ClinVar Miner

Submissions for variant NM_001040151.2(SCN3B):c.371G>A (p.Arg124Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002349076 SCV002621397 uncertain significance Cardiovascular phenotype 2024-01-27 criteria provided, single submitter clinical testing The p.R124Q variant (also known as c.371G>A), located in coding exon 3 of the SCN3B gene, results from a G to A substitution at nucleotide position 371. The arginine at codon 124 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094326 SCV003020628 uncertain significance Brugada syndrome 7 2022-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 124 of the SCN3B protein (p.Arg124Gln). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SCN3B-related conditions. This variant is present in population databases (rs201894537, gnomAD 0.003%).

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