Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001883293 | SCV002137794 | uncertain significance | Brugada syndrome 5 | 2021-02-22 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 111 of the SCN1B protein (p.Val111Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. |
Ambry Genetics | RCV003164232 | SCV003858657 | uncertain significance | Cardiovascular phenotype | 2023-01-22 | criteria provided, single submitter | clinical testing | The p.V111I variant (also known as c.331G>A), located in coding exon 3 of the SCN1B gene, results from a G to A substitution at nucleotide position 331. The valine at codon 111 is replaced by isoleucine, 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. |