ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) (rs863223696)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195723 SCV000250593 pathogenic not provided 2018-10-18 criteria provided, single submitter clinical testing The A1383T variant in the MED12 gene has been reported previously as a pathogenic variant in two male siblings with microcephaly, dysmorphic features, failure to thrive, developmental delay, increased muscle tone, and chordee (Langely et al., 2015). The A1383T variant was not observed in approximately 6200 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 A1383T 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A1383T as a pathogenic variant.
Ambry Genetics RCV000622415 SCV000742505 uncertain significance Inborn genetic diseases 2017-05-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneReviews RCV000239402 SCV000297771 pathogenic FG syndrome 1 2016-08-11 no assertion criteria provided literature only

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.