Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001326740 | SCV001517785 | uncertain significance | Fanconi anemia | 2022-06-02 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 784 of the FANCD2 protein (p.Ser784Phe). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1026310). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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, |
RCV002504513 | SCV002816582 | uncertain significance | Fanconi anemia complementation group D2 | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153994 | SCV003843799 | likely pathogenic | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing |