ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)

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
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001255397 SCV001431797 pathogenic Global developmental delay 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV002570590 SCV003316867 pathogenic Transposition of the great arteries, dextro-looped 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg379*) in the MED13L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MED13L are known to be pathogenic (PMID: 25712080, 25758992). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of MED13L-related conditions (PMID: 31785789). ClinVar contains an entry for this variant (Variation ID: 977626). For these reasons, this variant has been classified as Pathogenic.

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.