ClinVar Miner

Submissions for variant NM_001735.3(C5):c.2206A>G (p.Ser736Gly)

gnomAD frequency: 0.00002  dbSNP: rs778780304
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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 RCV001933400 SCV002197336 uncertain significance not provided 2021-08-17 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 736 of the C5 protein (p.Ser736Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs778780304, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with C5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002503595 SCV002790230 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2021-12-05 criteria provided, single submitter clinical testing

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