Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001997541 | SCV002230297 | uncertain significance | Fanconi anemia | 2021-10-02 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with phenylalanine at codon 1203 of the FANCD2 protein (p.Ile1203Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs373757862, ExAC 0.001%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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, |
RCV002484780 | SCV002779823 | uncertain significance | Fanconi anemia complementation group D2 | 2022-03-15 | criteria provided, single submitter | clinical testing |