ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.323G>A (p.Arg108Gln)

gnomAD frequency: 0.00001  dbSNP: rs141278729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002445588 SCV002611773 uncertain significance Cardiovascular phenotype 2022-06-10 criteria provided, single submitter clinical testing The p.R108Q variant (also known as c.323G>A), located in coding exon 2 of the SCN10A gene, results from a G to A substitution at nucleotide position 323. The arginine at codon 108 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 tolerated 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 RCV003099324 SCV003496930 uncertain significance Brugada syndrome 2025-01-11 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 108 of the SCN10A protein (p.Arg108Gln). This variant is present in population databases (rs141278729, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1729279). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SCN10A protein function with a negative predictive value of 80%. 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.
GeneDx RCV003443031 SCV004169523 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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