ClinVar Miner

Submissions for variant NM_000064.4(C3):c.85A>G (p.Ile29Val)

dbSNP: rs1420892330
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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 RCV002038883 SCV002313663 uncertain significance not provided 2021-08-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with C3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 29 of the C3 protein (p.Ile29Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.
Fulgent Genetics, Fulgent Genetics RCV005017100 SCV005648799 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2024-01-09 criteria provided, single submitter clinical testing

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