ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.662C>A (p.Ser221Tyr)

gnomAD frequency: 0.00001  dbSNP: rs377528991
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001980549 SCV002271541 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects CFI function (PMID: 32510551, 35531992). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CFI protein function. ClinVar contains an entry for this variant (Variation ID: 1489275). This missense change has been observed in individual(s) with hemolytic uremic syndrome (PMID: 35619721). This variant is present in population databases (rs377528991, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 221 of the CFI protein (p.Ser221Tyr).
Fulgent Genetics, Fulgent Genetics RCV002479688 SCV002783863 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-02-18 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.