ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)

gnomAD frequency: 0.00001  dbSNP: rs771435716
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001952552 SCV002205509 uncertain significance not provided 2022-11-26 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: 1430842). This variant has not been reported in the literature in individuals affected with CFH-related conditions. This variant is present in population databases (rs771435716, gnomAD 0.03%). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1120 of the CFH protein (p.Ile1120Phe).
Fulgent Genetics, Fulgent Genetics RCV002503652 SCV002806973 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452194 SCV004177456 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452197 SCV004177457 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452196 SCV004177458 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452195 SCV004177459 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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