ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3817-12A>G

gnomAD frequency: 0.00003  dbSNP: rs545402956
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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 RCV001912790 SCV002175189 uncertain significance Fanconi anemia 2022-08-09 criteria provided, single submitter clinical testing This sequence change falls in intron 36 of the FANCI gene. It does not directly change the encoded amino acid sequence of the FANCI protein. This variant is present in population databases (rs545402956, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1398160). 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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