ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1745G>A (p.Arg582His)

gnomAD frequency: 0.00001  dbSNP: rs138890387
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002222771 SCV002499797 uncertain significance not provided 2024-03-13 criteria provided, single submitter clinical testing Has been reported in association with atypical hemolytic uremic syndrome but no other specific clinical information was provided in this report (PMID: 23307876); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, Geerlings_2018_Dissertation, Ji_2018_Article, 34189567, 30476936, 23307876)
Labcorp Genetics (formerly Invitae), Labcorp RCV002222771 SCV003523366 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 582 of the CFH protein (p.Arg582His). This variant is present in population databases (rs138890387, gnomAD 0.003%). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 23307876). ClinVar contains an entry for this variant (Variation ID: 1676855). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Genome-Nilou Lab RCV003454039 SCV004180828 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456281 SCV004180829 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454041 SCV004180830 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454040 SCV004180831 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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