ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3124C>T (p.Arg1042Trp)

gnomAD frequency: 0.00007  dbSNP: rs550043629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507916 SCV001713757 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507916 SCV002138558 uncertain significance not provided 2023-09-19 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt C3 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. ClinVar contains an entry for this variant (Variation ID: 1163118). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1042 of the C3 protein (p.Arg1042Trp). This variant is present in population databases (rs550043629, gnomAD 0.009%). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 20595690). This variant is also known as R1020W.
Fulgent Genetics, Fulgent Genetics RCV002495778 SCV002797128 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-12-21 criteria provided, single submitter clinical testing

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