ClinVar Miner

Submissions for variant NM_001735.3(C5):c.1407G>A (p.Trp469Ter)

gnomAD frequency: 0.00001  dbSNP: rs1408798589
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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 RCV002007249 SCV002236922 pathogenic not provided 2021-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with C5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp469*) in the C5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C5 are known to be pathogenic (PMID: 7730648, 19414197, 27026170).
Fulgent Genetics, Fulgent Genetics RCV002492116 SCV002799070 likely pathogenic Complement component 5 deficiency; Eculizumab, poor response to 2022-04-22 criteria provided, single submitter clinical testing

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