Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002325844 | SCV002608285 | uncertain significance | Cardiovascular phenotype | 2021-02-05 | criteria provided, single submitter | clinical testing | The c.3095delA variant, located in coding exon 17 of the SCN10A gene, results from a deletion of one nucleotide at nucleotide position 3095, causing a translational frameshift with a predicted alternate stop codon (p.Q1032Rfs*12). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of SCN10A has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003099190 | SCV003497312 | uncertain significance | Brugada syndrome | 2022-02-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1032Argfs*12) in the SCN10A gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN10A cause disease. This variant is present in population databases (rs760664319, gnomAD 0.0009%). 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. |