ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) (rs772858764)

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
Counsyl RCV000668648 SCV000793282 pathogenic Fanconi anemia, complementation group A 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001211107 SCV001382631 pathogenic Fanconi anemia 2019-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys34*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772858764, ExAC 0.02%). This variant has been observed in individuals affected with Fanconi anemia (PMID: 15643609, 22778927. In at least one of these individuals, the variant was reported to co-occur with another pathogenic variant in the FANCA gene. ClinVar contains an entry for this variant (Variation ID: 553243). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000668648 SCV001426016 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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.