ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)

gnomAD frequency: 0.00001  dbSNP: rs770686014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783255 SCV002022340 pathogenic Fanconi anemia complementation group D2 2019-05-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256840 SCV002529513 likely pathogenic Fanconi anemia 2021-05-05 criteria provided, single submitter curation
Invitae RCV002256840 SCV003294117 pathogenic Fanconi anemia 2023-07-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1322880). This sequence change creates a premature translational stop signal (p.Gln1100Argfs*72) 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 (rs770686014, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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