ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.949C>T (p.Arg317Trp)

gnomAD frequency: 0.00006  dbSNP: rs121964917
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857336 SCV002288127 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 317 of the CFI protein (p.Arg317Trp). This variant is present in population databases (rs121964917, gnomAD 0.02%). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 16621965, 34169201). This variant is also known as R299W. ClinVar contains an entry for this variant (Variation ID: 12125). 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 with a negative predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CFI function (PMID: 17597211, 19877009). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001857336 SCV002542094 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496331 SCV002787195 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-07-14 criteria provided, single submitter clinical testing
OMIM RCV000012908 SCV000033149 risk factor Atypical hemolytic-uremic syndrome with I factor anomaly 2006-08-15 no assertion criteria provided literature only

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