Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987330 | SCV001136598 | pathogenic | Retinitis pigmentosa 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV000987330 | SCV001443220 | likely pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV000987330 | SCV001573640 | likely pathogenic | Retinitis pigmentosa 4 | 2021-04-08 | criteria provided, single submitter | research | The RHO c.509C>G 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: PM2, PS3, PP1. Based on this evidence we have classified this variant as Likely Pathogenic. |
Invitae | RCV001381860 | SCV001580418 | pathogenic | not provided | 2023-08-06 | criteria provided, single submitter | clinical testing | 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. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects RHO function (PMID: 30977563). ClinVar contains an entry for this variant (Variation ID: 437997). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 11139241, 29847639, 32581362). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 170 of the RHO protein (p.Pro170Arg). |
NIHR Bioresource Rare Diseases, |
RCV000505129 | SCV000598751 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |