ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2900G>A (p.Gly967Glu)

gnomAD frequency: 0.00002  dbSNP: rs375951438
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002552022 SCV003459779 uncertain significance not provided 2023-03-04 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 967 of the CFH protein (p.Gly967Glu). This variant is present in population databases (rs375951438, gnomAD 0.004%). This missense change has been observed in individual(s) with age-related macular degeneration (PMID: 29686068). ClinVar contains an entry for this variant (Variation ID: 829889). 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.
Revvity Omics, Revvity RCV002552022 SCV003831615 uncertain significance not provided 2020-03-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001029836 SCV004177362 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456176 SCV004177363 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455142 SCV004177364 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455141 SCV004177365 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030907 SCV004923723 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.2900G>A (p.G967E) alteration is located in exon 18 (coding exon 18) of the CFH gene. This alteration results from a G to A substitution at nucleotide position 2900, causing the glycine (G) at amino acid position 967 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 RCV001029836 SCV001192621 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2019-08-28 no assertion criteria provided clinical testing

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