ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2753G>A (p.Gly918Glu)

gnomAD frequency: 0.00001  dbSNP: rs1408179720
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508939 SCV001715380 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing
John Atkinson Laboratory, Washington University School of Medicine in St. Louis RCV001849192 SCV001905508 uncertain significance Thrombotic microangiopathy 2015-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001508939 SCV002173689 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 918 of the CFH protein (p.Gly918Glu). 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. Studies have shown that this missense change alters CFH gene expression (PMID: 34912830). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1163680). This missense change has been observed in individual(s) with CFH-related conditions (PMID: 26283675, 34912830). This variant is present in population databases (no rsID available, gnomAD 0.003%).
Genome-Nilou Lab RCV003451774 SCV004177348 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451777 SCV004177350 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451776 SCV004177351 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451775 SCV004177352 uncertain significance Factor H deficiency 2023-04-11 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.