ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1822C>G (p.Leu608Val)

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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004784927 SCV005397187 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2022-12-23 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (C>G) at coding position 1822 of the MED13L gene that results in a leucine to valine amino acid change at residue 608 of the MED13L protein. This variant has not been previously reported to databases of clinically relevant variants (ClinVar) or observed in the literature in individuals with MED13L-related illness, to our knowledge. This variant is present in the gnomAD population database (2 of 250864 alleles or 0.0008%). Multiple bioinformatic tools predict that this variant would be tolerated; however, the Leu608 residue is well conserved across the vertebrate species examined. Functiol studies testing the effect of this variant have not been performed, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this to be a variant of uncertain significance. ACMG Criteria: BP4, PM2

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.