ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2825_2826del (p.Val942fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005015903 SCV005647572 likely pathogenic Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2024-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112721 SCV005788961 pathogenic not provided 2024-03-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val942Glyfs*13) in the C3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C3 are known to be pathogenic (PMID: 12462331, 14639503, 21501302). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with C3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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