ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) (rs139021548)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000190597 SCV000245624 likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly 2015-03-10 criteria provided, single submitter clinical testing The p.Arg38X variant in IFT172 has not been previously reported in individuals with disease. This variant has been identified in 0.01% (4/67682) of European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs139021548). This nonsense variant leads to a premature termination codon at position 38 which is predicted to lead to a truncated or absent protein. Homozygous or compound heterozygous mutation in the IFT172 gene has been shown to cause short-rib thoracic dysplasia with or without polydactyly. In summary, although additional studies are required to fully establish its clinical significance, the p.Arg38X variant is likely pathogenic.

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.