Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003540767 | SCV000827577 | likely benign | not provided | 2024-05-28 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003999683 | SCV004821578 | likely benign | Cardiac arrhythmia | 2024-02-05 | criteria provided, single submitter | clinical testing | This synonymous variant causes a nucleotide substitution but does not change the encoded amino acid at codon 1294 of the SCN5A protein. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. 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). The 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. |
| Ambry Genetics | RCV004026460 | SCV005031313 | likely benign | Cardiovascular phenotype | 2024-01-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |