ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)

gnomAD frequency: 0.00011  dbSNP: rs62641696
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001967545 SCV002213415 uncertain significance not provided 2023-12-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 830 of the CFH protein (p.Arg830Trp). This variant is present in population databases (rs62641696, gnomAD 0.03%). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome and/or C3-glomerulopathy (PMID: 28941939, 29888403). ClinVar contains an entry for this variant (Variation ID: 1431503). 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 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.
Fulgent Genetics, Fulgent Genetics RCV002491984 SCV002781975 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-08-15 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003448434 SCV004176619 uncertain significance Factor H deficiency 2023-02-14 criteria provided, single submitter clinical testing The missense c.2488C>T (p.Arg830Trp) variant in CFH gene has been reported previously in individuals affected with C3-glomerulopathy / atypical hemolytic uremic syndrome (Merinero et al. 2017; Geerlings et al. 2018). The p.Arg830Trp is reported with an allele frequency of 0.007% in the gnomAD exomes database and is novel (not in any individuals) in 1000 Genomes database. This variant has been reported to the ClinVar database as Uncertain_significance with a status of criteria provided, single submitter. The amino acid change p.Arg830Trp in CFH is predicted as conserved by GERP++. The amino acid Arg at position 830 is changed to a Trp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).
Genome-Nilou Lab RCV003452202 SCV004177313 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452204 SCV004177314 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452203 SCV004177315 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003448434 SCV004177317 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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