ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.916_917del (p.Thr306fs)

dbSNP: rs764122657
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556612 SCV000626221 pathogenic Fanconi anemia 2023-08-16 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: 456141). This sequence change creates a premature translational stop signal (p.Thr306Alafs*32) 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). This variant is present in population databases (rs764122657, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions.
Fulgent Genetics, Fulgent Genetics RCV000668910 SCV002814632 likely pathogenic Fanconi anemia complementation group A 2022-05-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668910 SCV004196042 pathogenic Fanconi anemia complementation group A 2023-09-01 criteria provided, single submitter clinical testing
Counsyl RCV000668910 SCV000793585 likely pathogenic Fanconi anemia complementation group A 2017-08-21 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000668910 SCV001426038 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards.
Natera, Inc. RCV000556612 SCV002095082 pathogenic Fanconi anemia 2021-05-06 no assertion criteria provided clinical testing

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.