Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000685171 | SCV000812644 | uncertain significance | Brugada syndrome | 2018-05-24 | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN10A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 1422 of the SCN10A protein (p.Asn1422Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. |
| Ai |
RCV002223903 | SCV002501953 | uncertain significance | not provided | 2022-02-09 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003163094 | SCV003860561 | uncertain significance | Cardiovascular phenotype | 2023-02-02 | criteria provided, single submitter | clinical testing | The p.N1422K variant (also known as c.4266T>A), located in coding exon 24 of the SCN10A gene, results from a T to A substitution at nucleotide position 4266. The asparagine at codon 1422 is replaced by lysine, an amino acid with 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. |