ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) (rs769248873)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460384 SCV000547830 pathogenic Fanconi anemia 2019-08-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr487*) in the FANCI gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769248873, ExAC 0.01%). This variant has been observed in an individual affected with Fanconi anemia (PMID: 26590883). ClinVar contains an entry for this variant (Variation ID: 408247). Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000502163 SCV000594727 pathogenic Fanconi anemia, complementation group I 2017-03-16 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000502163 SCV001364870 pathogenic Fanconi anemia, complementation group I 2012-01-20 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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.