ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) (rs863223833)

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
GeneDx RCV000197792 SCV000250908 uncertain significance not provided 2015-06-22 criteria provided, single submitter clinical testing p.Gly322Asp (G322D) (GGT>GAT): c.965 G>A in exon 5 of the TGFBR1 gene (NM_004612.2) The G322D variant of unknown significance in the TGFBR1 gene has not been published as a mutation or reported as a benign polymorphism to our knowledge. The G322D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G322D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties, and occurs at a position that is conserved across species. Consequently, in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (G312S, H315R, M318R) have been reported in association with TGFBR1-related disorders, supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAADV2-PANCARD

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.