ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1274G>T (p.Arg425Leu)

gnomAD frequency: 0.00004  dbSNP: rs201714568
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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 RCV001906930 SCV002181734 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1406543). This variant has not been reported in the literature in individuals affected with C3-related conditions. This variant is present in population databases (rs201714568, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 425 of the C3 protein (p.Arg425Leu).
Fulgent Genetics, Fulgent Genetics RCV002507018 SCV002815062 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-05-12 criteria provided, single submitter clinical testing

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