ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) (rs587776909)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000024364 SCV001383778 pathogenic Saldino-Mainzer syndrome 2019-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1306Glyfs*56) in the IFT140 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775537867, ExAC 0.01%). This variant has been observed to segregate with Mainzer-Saldino in a family (PMID: 22503633). 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.
OMIM RCV000024364 SCV000045657 pathogenic Saldino-Mainzer syndrome 2012-05-04 no assertion criteria provided literature only
Dan Cohn Lab,University Of California Los Angeles RCV000515983 SCV000612041 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515983 SCV001479394 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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.