ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)

dbSNP: rs2137307992
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526652 SCV001737083 likely pathogenic Intellectual disability criteria provided, single submitter clinical testing
3billion RCV005253849 SCV005904406 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2023-10-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been previously reported as de novo in a similarly affected individual (PMID: 36368352). The variant has been reported to be associated with MED13L-related disorder (ClinVar ID: VCV001172667 /PMID: 36368352). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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.