Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001178480 | SCV001342938 | uncertain significance | Cardiomyopathy | 2023-06-07 | criteria provided, single submitter | clinical testing | This missense variant replaces asparagine with lysine at codon 35 of the DSG2 protein. Computational prediction tools and conservation analyses suggest that this variant may not impact protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in three individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 24125834, 25765472). This variant has also been identified in 2/280830 chromosomes 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. |