ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1286A>G (p.Gln429Arg)

gnomAD frequency: 0.00002  dbSNP: rs1331566750
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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 RCV001933924 SCV002202812 uncertain significance Brugada syndrome 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 429 of the SCN10A protein (p.Gln429Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). 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 RCV002386751 SCV002691517 uncertain significance Cardiovascular phenotype 2024-09-02 criteria provided, single submitter clinical testing The c.1286A>G (p.Q429R) alteration is located in exon 9 (coding exon 9) of the SCN10A gene. This alteration results from a A to G substitution at nucleotide position 1286, causing the glutamine (Q) at amino acid position 429 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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