ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.263G>A (p.Trp88Ter)

dbSNP: rs1870202051
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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001171634 SCV000999933 pathogenic Intellectual disability 2019-11-18 criteria provided, single submitter research The c.263G>A (p.Trp88Ter) variant in the MED13L gene is predicted to introduce a premature translation termination codon. It is predicted to cause loss of normal protein function either through abnormal, prematurely truncated protein, or by absence of protein product due to nonsense-mediated mRNA decay. This variant was not observed in the general population (gnomAD database). Multiple studies, reviewed in Asadollahi et al. 2017 (PMID: 28645799), have reported on the role of loss of function variants in the MED13L gene in individuals with intellectual disability with or without heart defects. This variant was identified in an adult undergoing exome sequencing due to a history of intellectual disability and developmental delay. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001047664 SCV001211635 pathogenic Transposition of the great arteries, dextro-looped 2019-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MED13L are known to be pathogenic (PMID: 23403903). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MED13L-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp88*) in the MED13L gene. It is expected to result in an absent or disrupted protein product.

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.