ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002726164 SCV003007244 uncertain significance not provided 2023-08-17 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. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 677 of the CFH protein (p.Glu677Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CFH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1962482). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Revvity Omics, Revvity RCV002726164 SCV003831614 uncertain significance not provided 2020-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455564 SCV004180873 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456296 SCV004180874 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455566 SCV004180875 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455565 SCV004180876 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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