Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001864331 | SCV002132812 | uncertain significance | PRPH2-related disorder | 2021-07-28 | criteria provided, single submitter | clinical testing | 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. 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 expected to disrupt PRPH2 protein function. This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with valine at codon 176 of the PRPH2 protein (p.Glu176Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. |
| Institute of Human Genetics, |
RCV004815696 | SCV005072891 | uncertain significance | Retinal dystrophy | 2022-01-01 | no assertion criteria provided | clinical testing |