ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.891C>G (p.Ser297Arg)

dbSNP: rs142285818
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626703 SCV000747406 pathogenic Exudative retinopathy; Retinal detachment; Cataract; Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Monocular strabismus; Optic disc drusen 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001270159 SCV001368047 pathogenic Pigmentary retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529794 SCV003346108 pathogenic not provided 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 297 of the RHO protein (p.Ser297Arg). 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: 7987331, 10967073; Invitae). ClinVar contains an entry for this variant (Variation ID: 523376). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). Experimental studies have shown that this missense change affects RHO function (PMID: 9380676, 30977563). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.