Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000646746 | SCV000768531 | uncertain significance | Brugada syndrome 5 | 2023-12-09 | criteria provided, single submitter | clinical testing | The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.4:c.*5093G>A in the primary transcript. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 175 of the SCN1B protein (p.Val175Met). This variant is present in population databases (rs776213428, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV002312699 | SCV000847276 | uncertain significance | Cardiovascular phenotype | 2023-12-13 | criteria provided, single submitter | clinical testing | The c.523G>A (p.V175M) alteration is located in exon 4 (coding exon 4) of the SCN1B gene. This alteration results from a G to A substitution at nucleotide position 523, causing the valine (V) at amino acid position 175 to be replaced by a methionine (M). The p.V175M alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |