ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln)

dbSNP: rs1064795727
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484899 SCV000571806 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing The R1149Q variant in the CFH gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1149Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1149Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret R1149Q as a variant of uncertain significance.
Invitae RCV000484899 SCV002997524 uncertain significance not provided 2022-10-31 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 422355). This variant has not been reported in the literature in individuals affected with CFH-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1149 of the CFH protein (p.Arg1149Gln).
Genome-Nilou Lab RCV003449227 SCV004177465 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449230 SCV004177466 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449229 SCV004177467 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449228 SCV004177468 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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