Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ce |
RCV001090665 | SCV001246338 | pathogenic | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001090665 | SCV004293494 | pathogenic | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro215 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8081400, 22321012, 26962691). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects RHO function (PMID: 30977563). 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 RHO protein function. ClinVar contains an entry for this variant (Variation ID: 870955). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 10874327, 32013026, 32531858). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 215 of the RHO protein (p.Pro215Leu). |
| Institute of Human Genetics, |
RCV004813728 | SCV005068799 | likely pathogenic | Retinal dystrophy | 2013-01-01 | criteria provided, single submitter | clinical testing |