ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2399+1G>T (rs376586707)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000024360 SCV001200458 pathogenic Saldino-Mainzer syndrome 2020-10-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 19 of the IFT140 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs376586707, ExAC 0.006%). This variant has been observed in individual(s) with IFT140-related conditions (PMID: 22503633, 26968735, 23418020). ClinVar contains an entry for this variant (Variation ID: 31680). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075306 SCV001240924 pathogenic Retinal dystrophy 2017-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV001536095 SCV001752805 pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-06-30 criteria provided, single submitter clinical testing
OMIM RCV000024360 SCV000045653 pathogenic Saldino-Mainzer syndrome 2013-05-01 no assertion criteria provided literature only
OMIM RCV000515584 SCV000611640 pathogenic Retinitis pigmentosa 80 2013-05-01 no assertion criteria provided literature only

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.