ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1369T>C (p.Ser457Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577096 SCV005060911 uncertain significance Factor I deficiency criteria provided, single submitter clinical testing The missense variant c.1369T>C (p.Ser457Pro) in the CFI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.001%) in the gnomAD Exomes. The amino acid Serine at position 457 is changed to a Proline changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Ser457Pro in CFI is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV004791693 SCV005410586 uncertain significance not provided 2024-09-11 criteria provided, single submitter clinical testing PP3

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