ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2419C>T (p.Leu807Phe) (rs886039381)

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
GeneDx RCV000256074 SCV000321733 uncertain significance not provided 2015-03-12 criteria provided, single submitter clinical testing The L807F variant in the GLI3 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The L807F variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however, data from ethnically-matched control individuals were not available to assess for a population-specific benign variant. The L807F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is well conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in a nearby residue (I808M) has been reported in the Human Gene Mutation Database in association with Greig cephalopolysyndactyly syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret L807F as a variant of unknown 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.