ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3242A>G (p.Tyr1081Cys)

gnomAD frequency: 0.00001  dbSNP: rs531259592
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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 RCV001952288 SCV002187546 uncertain significance not provided 2022-07-05 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1418783). This variant has not been reported in the literature in individuals affected with C3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1081 of the C3 protein (p.Tyr1081Cys).
Fulgent Genetics, Fulgent Genetics RCV002507045 SCV002806916 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-01-18 criteria provided, single submitter clinical testing

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