ClinVar Miner

Submissions for variant NM_001735.3(C5):c.4679-2A>G

gnomAD frequency: 0.00004  dbSNP: rs191466386
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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 RCV002042533 SCV002296068 likely pathogenic not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 38 of the C5 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in C5 are known to be pathogenic (PMID: 7730648, 19414197, 27026170). This variant is present in population databases (rs191466386, gnomAD 0.005%). 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: 1500220). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002492315 SCV002797805 likely pathogenic Complement component 5 deficiency; Eculizumab, poor response to 2022-04-14 criteria provided, single submitter clinical testing

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