ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.325G>A (p.Glu109Lys)

gnomAD frequency: 0.00006  dbSNP: rs748098641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894591 SCV002127828 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 109 of the CFI protein (p.Glu109Lys). This variant is present in population databases (rs748098641, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CFI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1368212). 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%. 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.
Fulgent Genetics, Fulgent Genetics RCV002482557 SCV002794379 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040435 SCV004923775 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.325G>A (p.E109K) alteration is located in exon 2 (coding exon 2) of the CFI gene. This alteration results from a G to A substitution at nucleotide position 325, causing the glutamic acid (E) at amino acid position 109 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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