ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.764G>A (p.Gly255Glu)

gnomAD frequency: 0.00004  dbSNP: rs771112278
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507512 SCV001713107 uncertain significance not provided 2020-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507512 SCV003493444 uncertain significance not provided 2024-05-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 255 of the CFH protein (p.Gly255Glu). This variant is present in population databases (rs771112278, gnomAD 0.02%). This missense change has been observed in individual(s) with CFH-related conditions (PMID: 34508573). ClinVar contains an entry for this variant (Variation ID: 1162887). 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.
Genome-Nilou Lab RCV003451764 SCV004180748 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456236 SCV004180749 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451766 SCV004180750 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451765 SCV004180751 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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