ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)

dbSNP: rs757567225
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 RCV001390067 SCV001591669 pathogenic Fanconi anemia 2020-05-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). This variant has not been reported in the literature in individuals with FANCD2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Ala629Leufs*11) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003463034 SCV004196754 likely pathogenic Fanconi anemia complementation group D2 2023-04-01 criteria provided, single submitter 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.