ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2976+6T>C

gnomAD frequency: 0.00013  dbSNP: rs201875004
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692779 SCV000820622 uncertain significance Fanconi anemia 2022-07-05 criteria provided, single submitter clinical testing This sequence change falls in intron 30 of the FANCD2 gene. It does not directly change the encoded amino acid sequence of the FANCD2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201875004, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 571594). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetic Services Laboratory, University of Chicago RCV001816710 SCV002071261 uncertain significance not specified 2019-10-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001816710 SCV003844573 uncertain significance not specified 2023-02-11 criteria provided, single submitter clinical testing
GeneDx RCV003325514 SCV004031959 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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