ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val)

dbSNP: rs1177608611
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000797433 SCV000936990 benign Transposition of the great arteries, dextro-looped 2023-10-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702426 SCV005203938 uncertain significance not specified 2024-06-24 criteria provided, single submitter clinical testing Variant summary: MED13L c.6311C>T (p.Ala2104Val) results in a non-conservative amino acid change located in the Mediator complex subunit Med13, C-terminal (IPR009401) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251190 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6311C>T in individuals affected with Intellectual Disability And Distinctive Facial Features With Or Without Cardiac Defects and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 643671). Based on the evidence outlined above, the variant was classified as uncertain significance.

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.