ClinVar Miner

Submissions for variant NM_000064.4(C3):c.769G>A (p.Ala257Thr)

gnomAD frequency: 0.00004  dbSNP: rs200918899
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869010 SCV002152422 uncertain significance not provided 2025-02-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 257 of the C3 protein (p.Ala257Thr). This variant is present in population databases (rs200918899, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with C3-related conditions. ClinVar contains an entry for this variant (Variation ID: 599116). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt C3 protein function with a positive predictive value of 80%. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001869010 SCV002541485 uncertain significance not provided 2021-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485950 SCV002779857 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2024-01-20 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735714 SCV000863863 uncertain significance Atypical hemolytic-uremic syndrome with C3 anomaly 2018-05-16 no assertion criteria provided clinical testing

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