ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.565G>A (p.Glu189Lys)

gnomAD frequency: 0.00004  dbSNP: rs121913054
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001866874 SCV002126669 uncertain significance not provided 2024-09-29 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 189 of the CFH protein (p.Glu189Lys). This variant is present in population databases (rs121913054, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CFH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355349). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002503384 SCV002788139 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-02-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451989 SCV004180733 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451992 SCV004180735 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451991 SCV004180736 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451990 SCV004180737 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004611900 SCV005107432 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.565G>A (p.E189K) alteration is located in exon 5 (coding exon 5) of the CFH gene. This alteration results from a G to A substitution at nucleotide position 565, causing the glutamic acid (E) at amino acid position 189 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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