ClinVar Miner

Submissions for variant NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) (rs121917787)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000012820 SCV000891278 likely pathogenic Fanconi anemia, complementation group D2 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000809924 SCV000950107 pathogenic Fanconi anemia 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 302 of the FANCD2 protein (p.Arg302Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs121917787, ExAC 0.003%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in several individuals affected with Fanconi anemia (PMID: 11239453, 25703294, 22720145, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. In addition, this variant has been observed in to segregate with Fanconi anemia in a family (PMID: 11239453). ClinVar contains an entry for this variant (Variation ID: 12040). This variant has been reported to affect FANCD2 protein function (PMID: 11239453, 17308347, 22828868). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012820 SCV000033060 pathogenic Fanconi anemia, complementation group D2 2001-02-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000012820 SCV001364772 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.