ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4665dup (p.Asn1556fs)

dbSNP: rs1554304247
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 RCV000478594 SCV000566151 pathogenic not provided 2015-04-17 criteria provided, single submitter clinical testing The c.4665dupC variant in the GLI3 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The c.4665dupC duplication causes a frameshift startingwith codon Asparagine 1556, changes this amino acid to a Glutamine residue and creates a Stop codon atposition 42 of the new reading frame, denoted p.Asn1556GlnfsX42. This variant is predicted to replacethe last 25 amino acids typically present in the protein with 41 incorrect amino acids, likely impacting theprotein structure and function. The c.4665dupC variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. We interpret c.4665dupC as a pathogenic variant.

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.