ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3058+1G>A

gnomAD frequency: 0.00001  dbSNP: rs149464307
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002560183 SCV003258310 likely pathogenic Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 28 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 (rs149464307, gnomAD 0.002%). Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 36513378). ClinVar contains an entry for this variant (Variation ID: 929730). 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.
Leiden Open Variation Database RCV001195001 SCV001364879 pathogenic Fanconi anemia complementation group I 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.