Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002481843 | SCV002786846 | uncertain significance | Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001724212 | SCV004293866 | uncertain significance | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 567 of the CFH protein (p.Arg567Gly). This variant is present in population databases (rs757756991, gnomAD 0.0009%). This missense change has been observed in individual(s) with basal laminar drusen or post-infectious glomerulonephritis (PMID: 18252232, 23235567). ClinVar contains an entry for this variant (Variation ID: 830004). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029970 | SCV001192770 | uncertain significance | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 2019-09-24 | no assertion criteria provided | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724212 | SCV001952842 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724212 | SCV001975167 | uncertain significance | not provided | no assertion criteria provided | clinical testing |