ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)

gnomAD frequency: 0.00004  dbSNP: rs755350165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783260 SCV002023026 pathogenic Fanconi anemia complementation group D2 2019-05-20 criteria provided, single submitter clinical testing
Invitae RCV001885160 SCV002133899 pathogenic Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg794*) 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 (rs755350165, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with melanoma (PMID: 29625052). ClinVar contains an entry for this variant (Variation ID: 1322885). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001783260 SCV002792773 likely pathogenic Fanconi anemia complementation group D2 2022-02-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV001783260 SCV004196744 likely pathogenic Fanconi anemia complementation group D2 2023-07-26 criteria provided, single submitter clinical testing

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