ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.157C>T (p.Arg53Cys)

gnomAD frequency: 0.00001  dbSNP: rs757785149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379747 SCV001577606 likely pathogenic not provided 2017-10-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change severely impairs the ability of FH to perform decay accelerating activity (PMID: 24847005). This variant has been reported in several individuals affected with atypical hemolytic uremic syndrome (PMID: 20203157, 23307876, 25006455, 26826462), in individuals affected with isolated glomerulonephritis with isolated C3 deposits (PMID:22456601), and shown to segregate with disease in a family with age-related macular degeneration (PMID: 24847005). This variant is present in population databases (rs757785149, ExAC 0.003%). This sequence change replaces arginine with cysteine at codon 53 of the CFH protein (p.Arg53Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine.
Institute of Human Genetics, University of Leipzig Medical Center RCV002256753 SCV002526718 pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2022-05-27 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS3, PM5_STR, PS4_SUP, PM1_SUP, PP3 identified in patient with polygenic aHUS together with variant in CFH (ClinVar-ID: 505831)
Fulgent Genetics, Fulgent Genetics RCV002488198 SCV002777170 likely pathogenic Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450049 SCV004180677 likely pathogenic Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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