Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000798076 | SCV000937672 | uncertain significance | Brugada syndrome 7 | 2023-03-07 | 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 644208). This variant has not been reported in the literature in individuals affected with SCN3B-related conditions. This variant is present in population databases (rs755967151, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 132 of the SCN3B protein (p.Arg132Gln). |
Fulgent Genetics, |
RCV000798076 | SCV002814946 | uncertain significance | Brugada syndrome 7 | 2021-09-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027942 | SCV003665509 | uncertain significance | Cardiovascular phenotype | 2023-02-08 | criteria provided, single submitter | clinical testing | The p.R132Q variant (also known as c.395G>A), located in coding exon 3 of the SCN3B gene, results from a G to A substitution at nucleotide position 395. The arginine at codon 132 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |