Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001207718 | SCV001379083 | uncertain significance | Brugada syndrome | 2021-11-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1250*) 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 (rs202134330, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. ClinVar contains an entry for this variant (Variation ID: 938492). 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. |
| Ambry Genetics | RCV002348680 | SCV002622688 | uncertain significance | Cardiovascular phenotype | 2022-01-05 | criteria provided, single submitter | clinical testing | The p.R1250* variant (also known as c.3748C>T), located in coding exon 21 of the SCN10A gene, results from a C to T substitution at nucleotide position 3748. This changes the amino acid from an arginine to a stop codon within coding exon 21. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of SCN10A has not been clearly established as a mechanism of disease, and the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |