Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001919489 | SCV002187774 | uncertain significance | Brugada syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1422343). This variant is present in population databases (rs758224718, gnomAD 0.003%). This sequence change affects codon 688 of the SCN10A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN10A protein. |
| Ambry Genetics | RCV002423062 | SCV002724856 | uncertain significance | Cardiovascular phenotype | 2021-07-28 | criteria provided, single submitter | clinical testing | The c.2064C>T variant (also known as p.G688G), located in coding exon 13 of the SCN10A gene, results from a C to T substitution at nucleotide position 2064. This nucleotide substitution does not change the amino acid at codon 688. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |