ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1417G>C (p.Gly473Arg)

dbSNP: rs2140682417
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001931799 SCV002211791 uncertain significance Aortic valve disease 2 2021-09-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects SMAD6 function (PMID: 32499606). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individual(s) with craniosynostosis (PMID: 32499606). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 473 of the SMAD6 protein (p.Gly473Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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.