ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1702G>A (p.Gly568Ser)

gnomAD frequency: 0.00001  dbSNP: rs749836289
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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 RCV001889974 SCV002142747 uncertain significance not provided 2023-06-14 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 not expected to disrupt C3 protein function. ClinVar contains an entry for this variant (Variation ID: 1377734). This variant has not been reported in the literature in individuals affected with C3-related conditions. This variant is present in population databases (rs749836289, gnomAD 0.008%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 568 of the C3 protein (p.Gly568Ser).
Fulgent Genetics, Fulgent Genetics RCV005016722 SCV005649895 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2024-05-22 criteria provided, single submitter clinical testing

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