Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003540936 | SCV000941982 | uncertain significance | not provided | 2018-11-06 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SCN5A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 823 of the SCN5A protein (p.Pro823Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. |
| All of Us Research Program, |
RCV004001645 | SCV004825054 | uncertain significance | Cardiac arrhythmia | 2023-08-15 | criteria provided, single submitter | clinical testing |