ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.506A>G (p.His169Arg)

gnomAD frequency: 0.00001  dbSNP: rs768647508
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334298 SCV001527101 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2018-09-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001871860 SCV002227260 uncertain significance not provided 2021-01-28 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 arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CFH-related conditions. This variant is present in population databases (rs768647508, ExAC 0.004%). This sequence change replaces histidine with arginine at codon 169 of the CFH protein (p.His169Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine.
Daryl Scott Lab, Baylor College of Medicine RCV003399118 SCV004102669 uncertain significance CFH-related disorder 2023-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001334298 SCV004180720 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449955 SCV004180721 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449954 SCV004180722 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449953 SCV004180724 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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