ClinVar Miner

Submissions for variant NM_001710.6(CFB):c.427C>T (p.Arg143Cys)

gnomAD frequency: 0.00001  dbSNP: rs1242945827
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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 RCV001862422 SCV002304529 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CFB-related conditions. ClinVar contains an entry for this variant (Variation ID: 829882). This sequence change replaces arginine with cysteine at codon 143 of the CFB protein (p.Arg143Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029828 SCV001192612 uncertain significance Atypical hemolytic-uremic syndrome with B factor anomaly 2019-08-13 no assertion criteria provided clinical testing

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