Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001896644 | SCV002177104 | uncertain significance | Fanconi anemia | 2021-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with glycine at codon 1076 of the FANCD2 protein (p.Ser1076Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine 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. |
Sema4, |
RCV001896644 | SCV002529511 | uncertain significance | Fanconi anemia | 2022-02-24 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002478309 | SCV002781290 | uncertain significance | Fanconi anemia complementation group D2 | 2022-04-30 | criteria provided, single submitter | clinical testing |