Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000475877 | SCV000547815 | uncertain significance | Fanconi anemia | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 938 of the FANCI protein (p.Asp938Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCI-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 glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 | RCV004022681 | SCV004869883 | uncertain significance | Inborn genetic diseases | 2024-01-09 | criteria provided, single submitter | clinical testing | The c.2813A>G (p.D938G) alteration is located in exon 26 (coding exon 25) of the FANCI gene. This alteration results from a A to G substitution at nucleotide position 2813, causing the aspartic acid (D) at amino acid position 938 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |