ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.568A>G (p.Ile190Val)

gnomAD frequency: 0.00006  dbSNP: rs374780236
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719885 SCV000250615 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Invitae RCV003764844 SCV000754959 benign FG syndrome 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345427 SCV002652455 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-07 criteria provided, single submitter clinical testing The p.I190V variant (also known as c.568A>G), located in coding exon 5 of the MED12 gene, results from an A to G substitution at nucleotide position 568. The isoleucine at codon 190 is replaced by valine, an amino acid with highly similar properties. In one study, authors used in silico models and computational methods to determine potential pathogenicity of this alteration, which remains unclear (Banaganapalli B et al. J. Cell. Biochem., 2016 09;117:2023-35). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ITMI RCV000121332 SCV000085506 not provided not specified 2013-09-19 no assertion provided reference population

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.