ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg)

gnomAD frequency: 0.00001  dbSNP: rs759364352
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523671 SCV000618726 uncertain significance not provided 2023-09-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35295078)
Baylor Genetics RCV001332577 SCV001524947 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332577 SCV004531298 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-07-02 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 27 of the CSF3R protein (p.Gly27Arg). This variant is present in population databases (rs759364352, gnomAD 0.003%). This missense change has been observed in individual(s) with severe congenital neutropenia (PMID: 35295078). ClinVar contains an entry for this variant (Variation ID: 450176). 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 CSF3R protein function with a positive 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001332577 SCV005441880 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-12-19 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.