Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069818 | SCV001235015 | pathogenic | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 171 of the RHO protein (p.Pro171Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 1833777, 29847639). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 862966). 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 with a positive predictive value of 80%. Experimental studies have shown that this missense change affects RHO function (PMID: 8253795). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001073649 | SCV001239200 | pathogenic | Retinal dystrophy | 2019-07-29 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV001265189 | SCV001443222 | pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV001265189 | SCV001573639 | likely pathogenic | Retinitis pigmentosa 4 | 2021-04-08 | criteria provided, single submitter | research | The RHO c.512C>T variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PS1, PM2, PP1. Based on this evidence we have classified this variant as Likely Pathogenic. |
Dept Of Ophthalmology, |
RCV001073649 | SCV004705658 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |