ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.497G>T (p.Arg166Leu)

dbSNP: rs770339409
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001905321 SCV002133469 uncertain significance not provided 2023-12-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 166 of the CFH protein (p.Arg166Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of hemolytic uremic syndrome (PMID: 24333077). ClinVar contains an entry for this variant (Variation ID: 1364285). 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 RCV002506910 SCV002815064 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452016 SCV004180711 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456249 SCV004180713 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452018 SCV004180714 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452017 SCV004180715 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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