ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.181C>G (p.Leu61Val)

gnomAD frequency: 0.00001  dbSNP: rs779976283
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 RCV002020860 SCV002306882 uncertain significance Neutropenia, severe congenital, 2, autosomal dominant 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 61 of the GFI1 protein (p.Leu61Val). This variant is present in population databases (rs779976283, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with GFI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1515128). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GFI1 protein function with a negative predictive value of 80%. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004691489 SCV005186772 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004917772 SCV005593408 uncertain significance not specified 2024-11-22 criteria provided, single submitter clinical testing The p.L61V variant (also known as c.181C>G), located in coding exon 2 of the GFI1 gene, results from a C to G substitution at nucleotide position 181. The leucine at codon 61 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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.