ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.2487C>G (p.Tyr829Ter) (rs1289665675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630893 SCV000751866 pathogenic Fanconi anemia 2017-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr829*) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCD2-related disease. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657573 SCV000779310 likely pathogenic not provided 2018-05-25 criteria provided, single submitter clinical testing The Y829X variant in the FANCD2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y829X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Y829X as a likely pathogenic variant.

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