ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2668C>T (p.Pro890Ser)

gnomAD frequency: 0.00004  dbSNP: rs531463049
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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 RCV001988108 SCV002227185 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 890 of the C3 protein (p.Pro890Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs531463049, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with C3-related conditions. 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002484761 SCV002787990 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-05-26 criteria provided, single submitter clinical testing

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