ClinVar Miner

Submissions for variant NM_001735.3(C5):c.2543A>G (p.Tyr848Cys)

gnomAD frequency: 0.00001  dbSNP: rs1288535384
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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 RCV002044390 SCV002116581 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1348579). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 848 of the C5 protein (p.Tyr848Cys).
Fulgent Genetics, Fulgent Genetics RCV002503357 SCV002812745 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2021-08-25 criteria provided, single submitter clinical testing

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