ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.526T>C (p.Phe176Leu)

gnomAD frequency: 0.00003  dbSNP: rs762132970
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001872113 SCV002126123 uncertain significance not provided 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 176 of the CFH protein (p.Phe176Leu). This variant is present in population databases (rs762132970, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of CFH-related conditions (PMID: 29511899, 29686068). ClinVar contains an entry for this variant (Variation ID: 1358876). 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.
Fulgent Genetics, Fulgent Genetics RCV002489983 SCV002798208 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-05-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452003 SCV004180729 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452006 SCV004180730 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452005 SCV004180731 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452004 SCV004180732 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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