ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2275C>T (p.Arg759Cys)

dbSNP: rs745659019
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952859 SCV002213998 uncertain significance Brugada syndrome 2021-06-23 criteria provided, single submitter clinical testing 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 expected to disrupt SCN10A protein function. 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. This variant has not been reported in the literature in individuals with SCN10A-related conditions. This variant is present in population databases (rs745659019, ExAC 0.009%). This sequence change replaces arginine with cysteine at codon 759 of the SCN10A protein (p.Arg759Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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