Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171899 | SCV000050903 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Color Diagnostics, |
RCV001804903 | SCV002052072 | uncertain significance | Cardiomyopathy | 2021-06-14 | criteria provided, single submitter | clinical testing | This missense variant replaces valine with isoleucine at codon 281 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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 been identified in 1/249280 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. |