Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002435861 | SCV002754276 | uncertain significance | Cardiovascular phenotype | 2024-07-30 | criteria provided, single submitter | clinical testing | The p.Q101K variant (also known as c.301C>A), located in coding exon 3 of the SCN3B gene, results from a C to A substitution at nucleotide position 301. The glutamine at codon 101 is replaced by lysine, an amino acid with similar properties. This alteration has been reported in a Brugada syndrome cohort; however, clinical details were limited and additional variants were reported (Peeters U et al, 2015 Jul;79:2118-29). This amino acid position is highly conserved in available vertebrate species. 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. |
| Labcorp Genetics |
RCV003102978 | SCV003450946 | uncertain significance | Brugada syndrome 7 | 2023-03-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 101 of the SCN3B protein (p.Gln101Lys). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SCN3B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1798890). 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. |