ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) (rs377308647)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554248 SCV000626298 uncertain significance Fanconi anemia 2019-08-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 735 of the FANCI protein (p.Ile735Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs377308647, ExAC 0.02%). This variant has not been reported in the literature in individuals with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 456205). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics,Fulgent Genetics RCV000765225 SCV000896461 uncertain significance Fanconi anemia, complementation group I 2018-10-31 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000765225 SCV002011148 uncertain significance Fanconi anemia, complementation group I 2021-11-03 criteria provided, single submitter clinical testing

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.