ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.205A>G (p.Lys69Glu)

gnomAD frequency: 0.00002  dbSNP: rs771325547
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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 RCV001869009 SCV002195495 uncertain significance not provided 2023-06-27 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CFI protein function. ClinVar contains an entry for this variant (Variation ID: 599091). This variant has not been reported in the literature in individuals affected with CFI-related conditions. This variant is present in population databases (rs771325547, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 69 of the CFI protein (p.Lys69Glu).
Fulgent Genetics, Fulgent Genetics RCV002507315 SCV002806853 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535431 SCV003731396 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.205A>G (p.K69E) alteration is located in exon 2 (coding exon 2) of the CFI gene. This alteration results from a A to G substitution at nucleotide position 205, causing the lysine (K) at amino acid position 69 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735687 SCV000863833 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly 2018-03-15 no assertion criteria provided clinical testing

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