ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.509C>G (p.Pro170Arg)

dbSNP: rs1553781176
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Total submissions: 5
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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, Manchester, Central Manchester University Hospitals RCV000987330 SCV001443220 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear 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, University of Cambridge RCV000505129 SCV000598751 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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