ClinVar Miner

Submissions for variant NM_001928.4(CFD):c.285C>A (p.Tyr95Ter)

gnomAD frequency: 0.00002  dbSNP: rs752800376
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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 RCV001941773 SCV002236004 pathogenic not provided 2021-03-14 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 with CFD-related conditions. This variant is present in population databases (rs752800376, ExAC 0.004%). This sequence change creates a premature translational stop signal (p.Tyr95*) in the CFD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFD are known to be pathogenic (PMID: 11724962).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989741 SCV004807755 pathogenic Recurrent Neisseria infections due to factor D deficiency 2024-03-29 criteria provided, single submitter clinical testing

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