ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?)

dbSNP: rs2040120370
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
Invitae RCV001372647 SCV001569327 uncertain significance Saldino-Mainzer syndrome 2020-03-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with IFT140-related conditions. This sequence change disrupts the translational stop signal of the IFT140 mRNA. It is expected to extend the length of the IFT140 protein by 55 additional amino acid residues.

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.