ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.84+2_84+3del

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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 RCV003842974 SCV004641620 likely pathogenic Fanconi anemia 2023-12-01 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 2 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). This variant is present in population databases (rs780439710, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with kidney renal clear cell carcinoma (PMID: 26689913, 36451132). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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