ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3828+1G>C (rs1432988639)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546890 SCV000626197 likely pathogenic Fanconi anemia 2017-07-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 38 of the FANCA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature in individuals with a FANCA-related disease, a different change at the same nucleotide c.3828+1G>T has been reported in an individual affected with Fanconi anemia (FA) (PMID: 21273304). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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.