ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)

gnomAD frequency: 0.00019  dbSNP: rs201671665
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304040 SCV001493307 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 400 of the CFH protein (p.Gln400Lys). This variant is present in population databases (rs201671665, gnomAD 0.02%). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome and age-related macular degeneration (PMID: 22410797, 25814826, 29888403, 34508573). ClinVar contains an entry for this variant (Variation ID: 1006921). 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 tolerated. Experimental studies have shown that this missense change does not substantially affect CFH function (PMID: 36445700). 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.
Baylor Genetics RCV001332256 SCV001524513 uncertain significance Factor H deficiency 2020-09-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002499567 SCV002789829 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-04-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449864 SCV004180779 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449866 SCV004180780 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449865 SCV004180781 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001332256 SCV004180782 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001304040 SCV001742254 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001304040 SCV001964200 uncertain significance not provided no assertion criteria provided clinical testing

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