Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001932731 | SCV002167735 | uncertain significance | Fanconi anemia | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with threonine at codon 979 of the FANCI protein (p.Ser979Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs769453869, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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, |
RCV002482774 | SCV002786649 | uncertain significance | Fanconi anemia complementation group I | 2022-02-16 | criteria provided, single submitter | clinical testing |