ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.560G>A (p.Arg187Gln)

gnomAD frequency: 0.00007  dbSNP: rs143366614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001148815 SCV001309726 benign Atypical hemolytic-uremic syndrome with I factor anomaly 2017-05-02 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858976 SCV002297706 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 187 of the CFI protein (p.Arg187Gln). This variant is present in population databases (rs143366614, gnomAD 0.02%). This missense change has been observed in individual(s) with age-related macular degeneration and atypical haemolytic uraemic syndrome (PMID: 24036952, 25037630, 27268256, 28282489). ClinVar contains an entry for this variant (Variation ID: 902338). 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: 28282489, 32510551, 35619721). 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 RCV001858976 SCV004227011 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing BP4

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