ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1041C>G (p.Cys347Trp) (rs886039015)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253257 SCV000319667 uncertain significance Cardiovascular phenotype 2016-07-12 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001059804 SCV001224452 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-02-21 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 347 of the TGFBR1 protein (p.Cys347Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of TGFBR1-related conditions (PMID: 27879313). ClinVar contains an entry for this variant (Variation ID: 264034). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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.