ClinVar Miner

Submissions for variant NM_001131005.2(MEF2C):c.47_50ACAG[1] (p.Arg17_Gln18insTer) (rs1554150543)

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 RCV000498824 SCV000589511 pathogenic not provided 2015-10-31 criteria provided, single submitter clinical testing The c.51_54delACAG variant in the MEF2C gene has not been reported previously as a pathogenicvariant nor as a benign variant, to our knowledge. The c.51_54delACAG variant changes codon Gln18 to a premature Stop codon, denoted p.Gln18Ter. This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. The c.51_54delACAG variant was not observed in approximately 5900 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. We interpret c.51_54delACAG as a pathogenic variant.
GenomeConnect, ClinGen RCV000509200 SCV000606922 not provided MEF2C-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.