Submissions for variant NM_000539.3(RHO):c.316G>A (p.Gly106Arg)

gnomAD frequency: 0.00002  dbSNP: rs104893773

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001074389	SCV001239967	pathogenic	Retinal dystrophy	2019-08-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001207877	SCV001379244	pathogenic	not provided	2025-01-21	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 106 of the RHO protein (p.Gly106Arg). This variant is present in population databases (rs104893773, gnomAD 0.01%). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 1301135, 8905849, 11094174, 28559085). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13038). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt RHO protein function with a positive predictive value of 95%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on RHO function (PMID: 24520188). For these reasons, this variant has been classified as Pathogenic.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	RCV000013913	SCV001443208	likely pathogenic	Retinitis pigmentosa 4	2020-09-01	criteria provided, single submitter	clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV000013913	SCV001573345	pathogenic	Retinitis pigmentosa 4	2021-04-08	criteria provided, single submitter	research	The RHO c.316G>A 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, PP3, PP1-S, PS3. Based on this evidence we have classified this variant as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001207877	SCV001762263	pathogenic	not provided	2021-06-17	criteria provided, single submitter	clinical testing
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	RCV000787679	SCV004030291	pathogenic	Retinitis pigmentosa	2023-07-24	criteria provided, single submitter	research	Clinical significance based on ACMG v2.0
Dept Of Ophthalmology, Nagoya University	RCV001074389	SCV004705651	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001074389	SCV005072407	pathogenic	Retinal dystrophy	2021-01-01	criteria provided, single submitter	clinical testing
OMIM	RCV000013913	SCV000034160	pathogenic	Retinitis pigmentosa 4	1993-08-01	no assertion criteria provided	literature only
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787679	SCV000926669	pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research