ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2269+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1246708998
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050781 SCV001214905 uncertain significance Fanconi anemia 2023-10-04 criteria provided, single submitter clinical testing This sequence change falls in intron 24 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 (no rsID available, gnomAD 0.0009%). 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: 847267). 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 may create or strengthen a splice site. 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.

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