Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001945239 | SCV002183796 | uncertain significance | Brugada syndrome 5 | 2022-03-26 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 218 of the SCN1B protein (p.Glu218Lys). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5598G>A in the primary transcript. |
| Ambry Genetics | RCV004043423 | SCV005037181 | uncertain significance | Cardiovascular phenotype | 2024-01-16 | criteria provided, single submitter | clinical testing | The p.E218K variant (also known as c.652G>A), located in coding exon 5 of the SCN1B gene, results from a G to A substitution at nucleotide position 652. The glutamic acid at codon 218 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |