ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.245A>G (p.Lys82Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003562319 SCV004293864 uncertain significance not provided 2023-09-06 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. Experimental studies have shown that this missense change does not substantially affect CFH function (PMID: 34189567). 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 27799617). This variant is present in population databases (rs376337060, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 82 of the CFH protein (p.Lys82Arg).
Fulgent Genetics, Fulgent Genetics RCV005003668 SCV005629577 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-03-26 criteria provided, single submitter clinical testing

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