ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln)

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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001374624 SCV001571470 uncertain significance Van Maldergem syndrome 2 2021-03-01 criteria provided, single submitter research The FAT4 c.3738C>G (p.His1246Gln) missense variant is located in exon 2 and results in a single amino acid substitution from a histidine to a glutamine. To our knowledge, the variant has not been previously reported in affected individuals in the literature. This variant is absent from gnomAD human population database. This variant is classified as a VUS.

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.