ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2464G>A (p.Ala822Thr)

gnomAD frequency: 0.00002  dbSNP: rs144304164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219701 SCV001391651 uncertain significance Brugada syndrome 2022-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 948446). 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 not 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 affected with SCN10A-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 822 of the SCN10A protein (p.Ala822Thr). This variant is present in population databases (rs144304164, gnomAD 0.006%).
Ambry Genetics RCV002451500 SCV002736074 uncertain significance Cardiovascular phenotype 2024-10-04 criteria provided, single submitter clinical testing The c.2464G>A (p.A822T) alteration is located in exon 15 (coding exon 15) of the SCN10A gene. This alteration results from a G to A substitution at nucleotide position 2464, causing the alanine (A) at amino acid position 822 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003142173 SCV003820685 uncertain significance Episodic pain syndrome, familial, 2 2022-03-02 criteria provided, single submitter clinical testing

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