ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)

gnomAD frequency: 0.00004  dbSNP: rs28936382
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
Mendelics RCV000986339 SCV001135314 likely benign Neutropenia, severe congenital, 2, autosomal dominant 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000986339 SCV004280969 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant 2023-05-30 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt GFI1 protein function. ClinVar contains an entry for this variant (Variation ID: 8740). This missense change has been observed in individual(s) with neutropenia (PMID: 12778173). This variant is present in population databases (rs28936382, gnomAD 0.004%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 403 of the GFI1 protein (p.Lys403Arg).
OMIM RCV000009279 SCV000029497 pathogenic Nonimmune chronic idiopathic neutropenia of adults 2003-07-01 no assertion criteria provided literature only

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.