ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)

dbSNP: rs757756991
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002481843 SCV002786846 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-10-01 criteria provided, single submitter clinical testing
Invitae RCV001724212 SCV004293866 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 567 of the CFH protein (p.Arg567Gly). This variant is present in population databases (rs757756991, gnomAD 0.0009%). This missense change has been observed in individual(s) with basal laminar drusen or post-infectious glomerulonephritis (PMID: 18252232, 23235567). ClinVar contains an entry for this variant (Variation ID: 830004). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029970 SCV001192770 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2019-09-24 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724212 SCV001952842 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724212 SCV001975167 uncertain significance not provided no assertion criteria provided clinical testing

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