ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1816C>T (p.Arg606Trp)

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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 RCV003056530 SCV003447647 uncertain significance Brugada syndrome 2023-09-13 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 2140594). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 606 of the SCN10A protein (p.Arg606Trp).
Ambry Genetics RCV004983295 SCV005498442 uncertain significance Cardiovascular phenotype 2024-09-06 criteria provided, single submitter clinical testing The p.R606W variant (also known as c.1816C>T), located in coding exon 12 of the SCN10A gene, results from a C to T substitution at nucleotide position 1816. The arginine at codon 606 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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