Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235766 | SCV001408470 | uncertain significance | Fanconi anemia | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 113 of the FANCA protein (p.Ser113Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs149903404, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. 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 tolerated. 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. |
Institute for Clinical Genetics, |
RCV003238327 | SCV002010185 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001760248 | SCV002776908 | uncertain significance | Fanconi anemia complementation group A | 2022-03-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001235766 | SCV002090779 | uncertain significance | Fanconi anemia | 2020-05-04 | no assertion criteria provided | clinical testing |