ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.803C>T (p.Ser268Leu)

dbSNP: rs2126213962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251142 SCV002521587 uncertain significance Factor I deficiency 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.87; 3Cnet: 3CNET). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with CFI related disorder (PMID: 19065647). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.
Mayo Clinic Laboratories, Mayo Clinic RCV004793753 SCV005413658 likely pathogenic not provided 2024-02-13 criteria provided, single submitter clinical testing PP3, PM2, PS3_supporting, PS4

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