ClinVar Miner

Submissions for variant NM_001735.3(C5):c.3731C>T (p.Thr1244Met)

gnomAD frequency: 0.00007  dbSNP: rs754562499
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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 RCV001886514 SCV002153029 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1244 of the C5 protein (p.Thr1244Met). This variant is present in population databases (rs754562499, 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: 1380971). 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 RCV002478222 SCV002783963 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2022-04-01 criteria provided, single submitter clinical testing

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