ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2172dup (p.Ser725fs)

dbSNP: rs1555547955
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670729 SCV000795622 pathogenic Fanconi anemia complementation group A 2017-11-10 criteria provided, single submitter clinical testing
Invitae RCV001855546 SCV002172876 pathogenic Fanconi anemia 2023-06-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 554995). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 11091222). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser725Valfs*69) 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). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000670729 SCV002807589 pathogenic Fanconi anemia complementation group A 2021-08-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670729 SCV004196618 pathogenic Fanconi anemia complementation group A 2022-08-23 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000670729 SCV001426078 pathogenic Fanconi anemia complementation group A 2020-02-28 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.