ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)

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 RCV001205456 SCV001376716 pathogenic Fanconi anemia 2019-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln549*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779745863, ExAC 0.001%). This variant has been observed in combination with another FANCA variant in individuals affected with Fanconi anemia (PMID: 19367192, 24584348, 29098742). 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 RCV001256252 SCV001425662 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards.

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.