ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)

dbSNP: rs752671716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520637 SCV000621349 likely pathogenic not provided 2017-10-10 criteria provided, single submitter clinical testing The Y411X variant in the CFI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y411X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y411X as a likely pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV002490923 SCV002803178 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-12-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139741 SCV003826235 likely pathogenic Factor I deficiency 2022-04-11 criteria provided, single submitter clinical testing

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