ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3427C>A (p.Gln1143Lys)

dbSNP: rs15809
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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 RCV003828594 SCV004621844 uncertain significance not provided 2023-02-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 1143 of the CFH protein (p.Gln1143Lys). This variant is present in population databases (rs15809, gnomAD 0.0008%). This variant has not been reported in the literature in individuals affected with CFH-related conditions. 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 lysine 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 RCV005003730 SCV005632826 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-04-09 criteria provided, single submitter clinical testing

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