Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171025 | SCV000223589 | likely benign | not specified | 2013-06-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Mendelics | RCV000990192 | SCV001141045 | benign | Brugada syndrome 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990192 | SCV001220945 | uncertain significance | Brugada syndrome 5 | 2022-09-14 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 213 of the SCN1B protein (p.Pro213Thr). This variant is present in population databases (rs766373298, gnomAD 0.05%). This missense change has been observed in individual(s) with SCN1B-related conditions (PMID: 24662403, 31737628). ClinVar contains an entry for this variant (Variation ID: 190846). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects SCN1B function (PMID: 24662403). 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. |
Ambry Genetics | RCV002517645 | SCV003536926 | uncertain significance | Inborn genetic diseases | 2022-11-02 | criteria provided, single submitter | clinical testing | Unlikely to be causative of SCN1B-related epilepsy (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |