ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1531G>A (p.Gly511Ser)

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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 RCV002392564 SCV002703871 uncertain significance Cardiovascular phenotype 2021-06-08 criteria provided, single submitter clinical testing The p.G511S variant (also known as c.1531G>A), located in coding exon 11 of the SCN10A gene, results from a G to A substitution at nucleotide position 1531. The glycine at codon 511 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. 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 RCV003095297 SCV003005624 uncertain significance Brugada syndrome 2022-04-15 criteria provided, single submitter clinical testing 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 disrupt the consensus splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SCN10A protein function. This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. This variant is present in population databases (rs758503519, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 511 of the SCN10A protein (p.Gly511Ser).

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