ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.855+4C>G

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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 RCV003621146 SCV004499884 uncertain significance Fanconi anemia complementation group E 2023-02-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCE-related conditions. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the FANCE gene. It does not directly change the encoded amino acid sequence of the FANCE protein. It affects a nucleotide within the consensus splice site.

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