ClinVar Miner

Submissions for variant NM_001735.3(C5):c.2653C>T (p.Arg885Cys)

gnomAD frequency: 0.00008  dbSNP: rs373359894
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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 RCV001854541 SCV002236869 uncertain significance not provided 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 885 of the C5 protein (p.Arg885Cys). This variant is present in population databases (rs373359894, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with C5-related conditions. ClinVar contains an entry for this variant (Variation ID: 127072). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002483183 SCV002782158 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2021-11-22 criteria provided, single submitter clinical testing
OMIM RCV000114935 SCV000148833 affects Eculizumab, poor response to 2014-02-13 no assertion criteria provided literature only

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