ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg)

gnomAD frequency: 0.00019  dbSNP: rs146040966
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000472649 SCV000547823 uncertain significance Fanconi anemia 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 422 of the FANCI protein (p.Gly422Arg). This variant is present in population databases (rs146040966, gnomAD 0.02%). This missense change has been observed in individual(s) with Fanconi anemia (PMID: 17452773, 23613520). ClinVar contains an entry for this variant (Variation ID: 408241). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FANCI protein function. 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.
Baylor Genetics RCV001194992 SCV001481293 uncertain significance Fanconi anemia complementation group I 2019-07-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Leiden Open Variation Database RCV001194992 SCV001364868 uncertain significance Fanconi anemia complementation group I 2013-10-04 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.