ClinVar Miner

Submissions for variant NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002467375 SCV002762689 uncertain significance Loeys-Dietz syndrome 6 2022-03-03 criteria provided, single submitter clinical testing The SMAD2 c.998G>A (p.Gly333Glu) missense variant results in the substitution of glycine at amino acid position 333 with glutamic acid. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is located in the MH2 domain of the SMAD2 protein in which many other pathogenic missense variants have been reported (Micha et al. 2015; Schepers et al. 2018). This domain is important for TGF-beta mediated activation of SMAD2 (Buwaneka et al. 2021). Multiple lines of computational evidence suggest this variant may have a deleterious effect on the gene or gene product. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.998G>A (p.Gly333Glu) variant is classified as a variant of uncertain significance for Loeys-Dietz syndrome.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.