ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1992+3G>C

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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 RCV002943034 SCV003275622 uncertain significance Fanconi anemia 2022-02-09 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the FANCI gene. It does not directly change the encoded amino acid sequence of the FANCI protein. It affects a nucleotide within the consensus 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. 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 disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%).

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