ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5605C>G (p.Arg1869Gly)

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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 RCV005083612 SCV005717177 uncertain significance Brugada syndrome 2024-11-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1869 of the SCN10A protein (p.Arg1869Gly). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with atrial fibrillation (PMID: 25053638). This variant is also known as R1896G. 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%. Experimental studies have shown that this missense change affects SCN10A function (PMID: 32948286). 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.

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