Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001334298 | SCV001527101 | uncertain significance | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 2018-09-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Labcorp Genetics |
RCV001871860 | SCV002227260 | uncertain significance | not provided | 2024-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 169 of the CFH protein (p.His169Arg). This variant is present in population databases (rs768647508, gnomAD 0.003%). 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: 1032244). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Daryl Scott Lab, |
RCV003399118 | SCV004102669 | uncertain significance | CFH-related disorder | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001334298 | SCV004180720 | uncertain significance | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449955 | SCV004180721 | uncertain significance | Age related macular degeneration 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449954 | SCV004180722 | uncertain significance | Basal laminar drusen | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449953 | SCV004180724 | uncertain significance | Factor H deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing |