Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001901370 | SCV002175875 | uncertain significance | Fanconi anemia complementation group E | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 248 of the FANCE protein (p.Ala248Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine 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. |
| Ambry Genetics | RCV002557563 | SCV003627446 | uncertain significance | Inborn genetic diseases | 2022-06-30 | criteria provided, single submitter | clinical testing | The c.742G>A (p.A248T) alteration is located in exon 2 (coding exon 2) of the FANCE gene. This alteration results from a G to A substitution at nucleotide position 742, causing the alanine (A) at amino acid position 248 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003154216 | SCV003843430 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing |