ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2204G>A (p.Arg735Gln)

gnomAD frequency: 0.00011  dbSNP: rs201285239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350250 SCV001544638 uncertain significance not provided 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 735 of the C3 protein (p.Arg735Gln). This variant is present in population databases (rs201285239, gnomAD 0.02%). 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: 1045785). 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 not expected to disrupt C3 protein function with a negative 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.
Fulgent Genetics, Fulgent Genetics RCV002499700 SCV002812903 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036616 SCV004916117 uncertain significance Inborn genetic diseases 2023-11-17 criteria provided, single submitter clinical testing The c.2204G>A (p.R735Q) alteration is located in exon 17 (coding exon 17) of the C3 gene. This alteration results from a G to A substitution at nucleotide position 2204, causing the arginine (R) at amino acid position 735 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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