ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1750T>C (p.Ter584Gln)

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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 RCV003106280 SCV003781599 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the CFI mRNA. It is expected to extend the length of the CFI protein by 24 additional amino acid residues. This variant is present in population databases (rs184356649, gnomAD 0.02%). 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: 2413947). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005036647 SCV005659931 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2024-05-21 criteria provided, single submitter clinical testing

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