Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000655069 | SCV000776994 | uncertain significance | Atrial fibrillation, familial, 14 | 2023-10-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 154 of the SCN2B protein (p.Arg154Gln). This variant is present in population databases (rs753389706, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SCN2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 544054). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
| Fulgent Genetics, |
RCV000655069 | SCV002814583 | uncertain significance | Atrial fibrillation, familial, 14 | 2021-09-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003163021 | SCV003856281 | uncertain significance | Cardiovascular phenotype | 2023-02-26 | criteria provided, single submitter | clinical testing | The p.R154Q variant (also known as c.461G>A), located in coding exon 4 of the SCN2B gene, results from a G to A substitution at nucleotide position 461. The arginine at codon 154 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |