Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV005031170 | SCV005661396 | uncertain significance | Cranioectodermal dysplasia 1 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV005031170 | SCV005773355 | uncertain significance | Cranioectodermal dysplasia 1 | 2024-05-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1021 of the IFT122 protein (p.Arg1021Leu). This variant is present in population databases (rs762874935, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with IFT122-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) performed at Invitae indicates that this missense variant is not expected to disrupt IFT122 protein function with a negative predictive value of 80%. 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. |