ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.154C>T (p.Arg52Trp)

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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 RCV002403341 SCV002707440 uncertain significance Cardiovascular phenotype 2022-03-04 criteria provided, single submitter clinical testing The p.R52W variant (also known as c.154C>T), located in coding exon 1 of the SCN10A gene, results from a C to T substitution at nucleotide position 154. The arginine at codon 52 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096913 SCV002959048 uncertain significance Brugada syndrome 2022-05-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 52 of the SCN10A protein (p.Arg52Trp). This variant is present in population databases (rs754234000, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. 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. 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.

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