ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3704C>T (p.Ala1235Val)

gnomAD frequency: 0.00008  dbSNP: rs765984332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416156 SCV000493512 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851010 SCV002237354 uncertain significance Brugada syndrome 2025-01-28 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 1235 of the SCN10A protein (p.Ala1235Val). This variant is present in population databases (rs765984332, gnomAD 0.01%). 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: 374656). 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.
Ambry Genetics RCV002348139 SCV002622016 uncertain significance Cardiovascular phenotype 2023-12-14 criteria provided, single submitter clinical testing The c.3704C>T (p.A1235V) alteration is located in exon 21 (coding exon 21) of the SCN10A gene. This alteration results from a C to T substitution at nucleotide position 3704, causing the alanine (A) at amino acid position 1235 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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