ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2786del (p.Tyr929fs)

gnomAD frequency: 0.00001  dbSNP: rs779480428
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
Invitae RCV001040068 SCV001203623 pathogenic Fanconi anemia 2021-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 838509). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (rs779480428, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Tyr929Serfs*60) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192).
CeGaT Center for Human Genetics Tuebingen RCV003886469 SCV004703801 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing FANCA: PVS1, PM2

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.