ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2465C>T (p.Ala822Val)

gnomAD frequency: 0.00005  dbSNP: rs747839312
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543559 SCV000637007 uncertain significance Brugada syndrome 2024-11-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 822 of the SCN10A protein (p.Ala822Val). This variant is present in population databases (rs747839312, gnomAD 0.005%). 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: 463240). 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 RCV002274062 SCV002559577 uncertain significance not provided 2022-07-14 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
Ambry Genetics RCV002431588 SCV002731666 uncertain significance Cardiovascular phenotype 2024-05-17 criteria provided, single submitter clinical testing The p.A822V variant (also known as c.2465C>T), located in coding exon 15 of the SCN10A gene, results from a C to T substitution at nucleotide position 2465. The alanine at codon 822 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available 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.
Fulgent Genetics, Fulgent Genetics RCV002497115 SCV002816806 uncertain significance Episodic pain syndrome, familial, 2 2021-10-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002274062 SCV005189671 uncertain significance not provided criteria provided, single submitter not provided

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