ClinVar Miner

Submissions for variant NM_001735.3(C5):c.4426C>T (p.Arg1476Ter)

gnomAD frequency: 0.00018  dbSNP: rs121909588
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000018579 SCV001522654 pathogenic Complement component 5 deficiency 2019-02-07 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001851917 SCV002176466 pathogenic not provided 2025-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1476*) 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). This variant is present in population databases (rs121909588, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with complement component 5 (C5) deficiency (PMID: 7730648). This variant is also known as p.Arg1458*. ClinVar contains an entry for this variant (Variation ID: 17051). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002504806 SCV002811049 pathogenic Complement component 5 deficiency; Eculizumab, poor response to 2022-04-26 criteria provided, single submitter clinical testing
OMIM RCV000018579 SCV000038862 pathogenic Complement component 5 deficiency 1995-05-15 no assertion criteria provided literature only

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