Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000777702 | SCV000913645 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-08-20 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with arginine at codon 52 of the TGFBR1 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on 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 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. |
OMIM | RCV000022803 | SCV000044092 | risk factor | Multiple self-healing squamous epithelioma | 2011-02-27 | no assertion criteria provided | literature only |