ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.538C>A (p.Pro180Thr)

dbSNP: rs1560046837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000767362 SCV001443226 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092202 SCV005831927 likely pathogenic not provided 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 180 of the RHO protein (p.Pro180Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant RHO-related conditions (PMID: 32037395). ClinVar contains an entry for this variant (Variation ID: 625303). 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 have shown that this missense change affects RHO function (PMID: 30977563). This variant disrupts the p.Pro180 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11139241, 17014888; internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000767362 SCV000897933 pathogenic Retinitis pigmentosa 4 2019-01-09 no assertion criteria provided research

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