ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)

gnomAD frequency: 0.00001  dbSNP: rs763441589
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323342 SCV001514254 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 717 of the CFH protein (p.Phe717Leu). This variant is present in population databases (rs763441589, gnomAD 0.02%). This missense change has been observed in individual(s) with age-related macular degeneration and C3 glomerulopathies (PMID: 22456601, 26501415, 35925583). ClinVar contains an entry for this variant (Variation ID: 1023318). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002476520 SCV002784613 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-05-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449925 SCV004180895 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456220 SCV004180896 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449927 SCV004180897 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449926 SCV004180898 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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