ClinVar Miner

Submissions for variant NM_001710.6(CFB):c.1861G>A (p.Glu621Lys)

gnomAD frequency: 0.00001  dbSNP: rs573842877
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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 RCV001865255 SCV002227289 uncertain significance not provided 2025-01-21 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 621 of the CFB protein (p.Glu621Lys). This variant is present in population databases (rs573842877, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CFB-related conditions. ClinVar contains an entry for this variant (Variation ID: 369946). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CFB 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.
Breakthrough Genomics, Breakthrough Genomics RCV001865255 SCV005188850 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004975495 SCV005559794 uncertain significance Inborn genetic diseases 2024-09-25 criteria provided, single submitter clinical testing The c.1861G>A (p.E621K) alteration is located in exon 15 (coding exon 15) of the CFB gene. This alteration results from a G to A substitution at nucleotide position 1861, causing the glutamic acid (E) at amino acid position 621 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000408816 SCV000484916 uncertain significance Atypical hemolytic-uremic syndrome with B factor anomaly no assertion criteria provided clinical testing

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