ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)

dbSNP: rs762544228
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
GeneDx RCV003313185 SCV004012611 pathogenic not provided 2025-04-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17436244)
Baylor Genetics RCV001194924 SCV004196723 pathogenic Fanconi anemia complementation group D2 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001194924 SCV005661314 pathogenic Fanconi anemia complementation group D2 2024-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094035 SCV005834373 pathogenic Fanconi anemia 2024-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu888Argfs*16) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). This variant is present in population databases (rs762544228, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 17436244). ClinVar contains an entry for this variant (Variation ID: 929662). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001194924 SCV001364789 pathogenic Fanconi anemia complementation group D2 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.