Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000697107 | SCV000825701 | uncertain significance | Fanconi anemia | 2018-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with serine at codon 307 of the FANCI protein (p.Pro307Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs769485443, ExAC 0.1%). This variant has not been reported in the literature in individuals with FANCI-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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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, |
RCV000763986 | SCV000894937 | uncertain significance | Fanconi anemia, complementation group I | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000763986 | SCV001451641 | uncertain significance | Fanconi anemia, complementation group I | 2019-02-20 | criteria provided, single submitter | clinical testing | The FANCI c.919C>T (p.Pro307Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000981 in the East Asian population of the Genome Aggregation Database. Based on the limited evidence, the p.Pro307Ser variant is classified as a variant of uncertain significance for Fanconi anemia. |