ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)

dbSNP: rs104893779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386997 SCV001587464 pathogenic not provided 2022-09-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 190 of the RHO protein (p.Asp190Tyr). 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: 11141431, 29847639). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13040). 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. Experimental studies have shown that this missense change affects RHO function (PMID: 30240733, 30977563). This variant disrupts the p.Asp190 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1765377, 1862076, 24520188). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000504953 SCV004024608 pathogenic Retinitis pigmentosa 2023-08-16 criteria provided, single submitter clinical testing
OMIM RCV000013915 SCV000034162 pathogenic Retinitis pigmentosa 4 1992-05-01 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504953 SCV000598753 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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