ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3007-1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461510 SCV004197161 likely pathogenic Fanconi anemia complementation group I 2024-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003636030 SCV004456788 likely pathogenic Fanconi anemia 2022-12-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 (rs117921863, gnomAD 0.02%). This sequence change affects an acceptor splice site in intron 27 of the FANCI gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694).

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