ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.266G>A (p.Gly89Asp)

dbSNP: rs104893772
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213959 SCV001385621 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 89 of the RHO protein (p.Gly89Asp). 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, 1862076, 10967073). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13021). 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: 1924344, 12660238, 21352497). For these reasons, this variant has been classified as Pathogenic.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000013895 SCV001443206 pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
DASA RCV001813740 SCV002061290 pathogenic Pigmentary retinal dystrophy 2022-01-05 criteria provided, single submitter clinical testing The c.266G>A;p.(Gly89Asp) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID:13021; PMID: 1833777; 1862076; 1924344; 10967073; 12660238; 21352497) - PS4. Well-established in vitro or in vivo functional studies support a damaging effect on the gene or gene product (PMID: 1924344; 12660238; 21352497) - PS3_moderate. This variant is not present in population databases (rs104893772, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The variant co-segregated with disease in multiple affected family members (PMID: 1833777) - PP1. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001213959 SCV004011489 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing RHO: PP1:Strong, PM1, PM2, PS4:Moderate, PM5:Supporting, PS3:Supporting
OMIM RCV000013895 SCV000034142 pathogenic Retinitis pigmentosa 4 1991-08-01 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003167 SCV001161241 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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