ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5858C>T (p.Ala1953Val)

dbSNP: rs770070419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057453 SCV001221948 uncertain significance Brugada syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1953 of the SCN10A protein (p.Ala1953Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs770070419, ExAC 0.001%). 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 tolerated. 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.
Ambry Genetics RCV002355050 SCV002647657 uncertain significance Cardiovascular phenotype 2021-10-12 criteria provided, single submitter clinical testing The p.A1953V variant (also known as c.5858C>T), located in coding exon 27 of the SCN10A gene, results from a C to T substitution at nucleotide position 5858. The alanine at codon 1953 is replaced by valine, an amino acid with 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.

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