ClinVar Miner

Submissions for variant NM_000064.4(C3):c.283G>A (p.Glu95Lys)

gnomAD frequency: 0.00002  dbSNP: rs746332934
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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 RCV002000946 SCV002267866 uncertain significance not provided 2024-08-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 95 of the C3 protein (p.Glu95Lys). This variant is present in population databases (rs746332934, gnomAD 0.003%). 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: 1485719). 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 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 RCV002497964 SCV002799643 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2024-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043282 SCV004916120 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.283G>A (p.E95K) alteration is located in exon 3 (coding exon 3) of the C3 gene. This alteration results from a G to A substitution at nucleotide position 283, causing the glutamic acid (E) at amino acid position 95 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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