ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) (rs121917787)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809924 SCV000950107 pathogenic Fanconi anemia 2018-08-28 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). Experimental studies have shown that this missense change impairs FANCE binding and protein expression level of FANCD2 (PMID: 11239453, 17308347). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000012820 SCV000891278 likely pathogenic Fanconi anemia, complementation group D2 2016-11-21 criteria provided, single submitter clinical testing
OMIM RCV000012820 SCV000033060 pathogenic Fanconi anemia, complementation group D2 2001-02-01 no assertion criteria provided literature only

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