ClinVar Miner

Submissions for variant NM_025103.4(IFT74):c.106C>T (p.Arg36Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003073544 SCV003477261 pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg36*) in the IFT74 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT74 are known to be pathogenic (PMID: 33531668). This variant is present in population databases (rs200556379, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IFT74-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003434569 SCV004117203 likely pathogenic IFT74-related disorder 2024-04-26 no assertion criteria provided clinical testing The IFT74 c.106C>T variant is predicted to result in premature protein termination (p.Arg36*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0078% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in IFT74 are expected to be pathogenic, including loss of function variants in exon 1 that are associated with Joubert syndrome (Luo et al. 2021. PubMed ID: 33531668). Taken together, this variant is interpreted as 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.