Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171028 | SCV000223592 | likely benign | not specified | 2014-05-29 | 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. |
Invitae | RCV000794276 | SCV000933672 | uncertain significance | Brugada syndrome 5 | 2018-11-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with isoleucine at codon 248 of the SCN1B protein (p.Ser248Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine. This variant has not been reported in the literature in individuals with SCN1B-related disease. ClinVar contains an entry for this variant (Variation ID: 190849). 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"). |