Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001894157 | SCV002127373 | likely pathogenic | PRPH2-related disorder | 2023-05-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1358170). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 missense change has been observed in individuals with clinical features of autosomal dominant inherited retinal dystrophy and/or Stargardt disease (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 140 of the PRPH2 protein (p.Tyr140Cys). |
| Institute of Human Genetics, |
RCV004815671 | SCV005073595 | likely pathogenic | Retinal dystrophy | 2021-01-01 | no assertion criteria provided | clinical testing |