ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) (rs142579179)

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 RCV000441201 SCV000535675 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing The E430G variant in the TRIP11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E430G variant was not observed in the homozygous state at any significant frequency in approximately 6500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. The E430G 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E430G as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000352572 SCV000389590 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing

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.