ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.34del (p.Ala12fs)

dbSNP: rs1593238375
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008837 SCV001168641 pathogenic not provided 2016-12-30 criteria provided, single submitter clinical testing The c.34delG variant in the MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It was not observed in the large population cohort in the Exome Aggregation Consortium (ExAC). The c.34delG variant causes a frameshift starting with codon Alanine 12, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Ala12ArgfsX35. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of this pathogenic variant is consistent with a diagnosis of an MED13L-related disorder.

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.