ClinVar Miner

Submissions for variant NM_001735.3(C5):c.1759A>T (p.Thr587Ser)

dbSNP: rs2047317447
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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 RCV001896832 SCV002172579 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 587 of the C5 protein (p.Thr587Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant has not been reported in the literature in individuals with C5-related conditions. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002490200 SCV002777769 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2022-03-24 criteria provided, single submitter clinical testing

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