ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)

dbSNP: rs1289665675
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630893 SCV000751866 pathogenic Fanconi anemia 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 526371). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244).
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.
Revvity Omics, Revvity RCV001784202 SCV002022341 pathogenic Fanconi anemia complementation group D2 2019-06-10 criteria provided, single submitter clinical testing

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