ClinVar Miner

Submissions for variant NM_001735.3(C5):c.4652C>T (p.Thr1551Ile)

dbSNP: rs138510251
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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 RCV002010030 SCV002284956 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1551 of the C5 protein (p.Thr1551Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs138510251, ExAC 0.009%). This variant has not been reported in the literature in individuals with C5-related conditions. 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 isoleucine 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. 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 RCV002492275 SCV002797682 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2021-08-15 criteria provided, single submitter clinical testing

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