Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Center for Gene Diagnosis and Therapy, |
RCV003319260 | SCV003932394 | uncertain significance | Primary dilated cardiomyopathy | 2023-06-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004009687 | SCV004827262 | uncertain significance | Cardiac arrhythmia | 2023-07-19 | criteria provided, single submitter | clinical testing | This missense variant replaces phenylalanine with isoleucine at codon 434 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related 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. |