ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1300del (p.Glu434fs)

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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 RCV002604585 SCV002967903 pathogenic not provided 2024-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu434Lysfs*2) in the CFI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFI are known to be pathogenic (PMID: 15917334, 16621965, 19065647, 20016463, 22710145). This variant is present in population databases (rs757053954, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CFI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1923366). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005025900 SCV005658380 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2024-04-06 criteria provided, single submitter clinical testing

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