ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.419C>T (p.Ser140Leu) (rs1057524105)

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
GeneDx RCV000419910 SCV000534571 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing The S140L variant in the TGFBR gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S140L 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 S140L 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. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S140L as a variant of uncertain significance.
Ambry Genetics RCV000619133 SCV000739747 uncertain significance Cardiovascular phenotype 2016-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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.