Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003853942 | SCV004696161 | uncertain significance | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 76 of the FKBP10 protein (p.Gly76Ser). This variant is present in population databases (rs782166355, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FKBP10-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FKBP10 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 | RCV004369480 | SCV004870462 | uncertain significance | Inborn genetic diseases | 2023-11-09 | criteria provided, single submitter | clinical testing | The c.226G>A (p.G76S) alteration is located in exon 1 (coding exon 1) of the FKBP10 gene. This alteration results from a G to A substitution at nucleotide position 226, causing the glycine (G) at amino acid position 76 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |