ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)

gnomAD frequency: 0.00002  dbSNP: rs781393769
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942842 SCV002129948 uncertain significance not provided 2025-01-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 819 of the CFH protein (p.Asn819Ser). This variant is present in population databases (rs781393769, gnomAD 0.007%). 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: 1365901). 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 disruptive. 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 RCV002490027 SCV002789110 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452024 SCV004177303 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456250 SCV004177306 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452026 SCV004177307 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452025 SCV004177308 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001942842 SCV005409926 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815689 SCV005068898 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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