Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550015 | SCV000626478 | uncertain significance | Fanconi anemia | 2022-07-29 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1351 of the FANCD2 protein (p.Thr1351Met). This variant is present in population databases (rs775898191, gnomAD 0.009%). 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: 456359). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine 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. |
Institute for Clinical Genetics, |
RCV003237893 | SCV002011255 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001770410 | SCV002814036 | uncertain significance | Fanconi anemia complementation group D2 | 2022-04-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003237893 | SCV004146912 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | FANCD2: BP4 |