Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001842702 | SCV001342041 | uncertain significance | Cardiac arrhythmia | 2020-02-20 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with aspartic acid at codon 1784 of the SCN5A protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. A functional study has shown that the mutant protein carrying this variant did not affect sodium channel function (PMID: 10727653). To our knowledge, this variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |