ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)

gnomAD frequency: 0.00001  dbSNP: rs753331225
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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 RCV001903347 SCV002160053 uncertain significance not provided 2024-09-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 806 of the CFH protein (p.Ala806Ser). This variant is present in population databases (rs753331225, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CFH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1397127). 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. 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 RCV002490173 SCV002776070 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452088 SCV004177295 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452091 SCV004177296 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452090 SCV004177297 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452089 SCV004177298 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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