Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692360 | SCV000820178 | uncertain significance | Fanconi anemia | 2022-10-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1321 of the FANCD2 protein (p.Arg1321Pro). This variant is present in population databases (rs147205530, gnomAD 0.1%). 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: 571261). 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: "Tolerated"; 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. |
Knight Diagnostic Laboratories, |
RCV000692360 | SCV001449039 | uncertain significance | Fanconi anemia | 2019-11-27 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000692360 | SCV002529524 | uncertain significance | Fanconi anemia | 2021-06-13 | criteria provided, single submitter | curation | |
Gene |
RCV002293472 | SCV002586725 | uncertain significance | not provided | 2022-10-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002485653 | SCV002788079 | uncertain significance | Fanconi anemia complementation group D2 | 2022-03-08 | criteria provided, single submitter | clinical testing |