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: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001942842 SCV002129948 uncertain significance not provided 2022-10-22 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1365901). This variant has not been reported in the literature in individuals affected with CFH-related conditions. This variant is present in population databases (rs781393769, gnomAD 0.007%). 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).
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

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