ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr) (rs199822239)

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
Invitae RCV000474575 SCV000543784 uncertain significance Aortic valve disease 2 2018-10-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 325 of the SMAD6 protein (p.Ala325Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs199822239, ExAC 0.07%). This variant has been reported in an individual affected with congenital cardiovascular malformation (PMID: 22275001). Experimental studies have shown that this missense change did not have an appreciable effect on SMAD6 function in an in vitro assay (PMID: 22275001). In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.