ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.539C>T (p.Pro180Leu)

dbSNP: rs2084785483
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Total submissions: 2
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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 RCV001265192 SCV001443227 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV001880088 SCV002250834 pathogenic not provided 2023-03-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 984782). This missense change has been observed in individuals with clinical features of autosomal dominant retinitis pigmentosa (PMID: 33247286). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 180 of the RHO protein (p.Pro180Leu). 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 not expected to disrupt RHO protein function. For these reasons, this variant has been classified as Pathogenic. 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, 22334370, 30240733; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.

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