ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)

dbSNP: rs551305056
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382026 SCV001580621 pathogenic Fanconi anemia 2024-04-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1299*) in the FANCI gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the FANCI protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal recessive Fanconi anemia (PMID: 17452773, 17460694). ClinVar contains an entry for this variant (Variation ID: 929717). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects FANCI function (PMID: 20971953). This variant disrupts the C-terminus of the FANCI protein. Other variant(s) that disrupt this region (p.Asp1301Glyfs*3) have been observed in individuals with FANCI-related conditions (PMID: 17460694). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001194987 SCV002801773 pathogenic Fanconi anemia complementation group I 2024-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222250 SCV003917419 pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing FANCI: PVS1:Strong, PM2, PM3, PS3:Supporting, PS4:Supporting
Baylor Genetics RCV001194987 SCV004197159 pathogenic Fanconi anemia complementation group I 2023-10-05 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194987 SCV001364863 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.