Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000697784 | SCV000826414 | uncertain significance | Fanconi anemia | 2018-05-21 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with proline at codon 10 of the FANCD2 protein (p.Ser10Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs150075366, ExAC 0.03%). This variant has not been reported in the literature in individuals with FANCD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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, |
RCV000764451 | SCV000895513 | uncertain significance | Fanconi anemia, complementation group D2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV000764451 | SCV001311829 | uncertain significance | Fanconi anemia, complementation group D2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |