ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.284T>C (p.Leu95Pro)

dbSNP: rs2084758666
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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 RCV001265178 SCV001443207 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV001345144 SCV001539246 uncertain significance not provided 2020-10-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. This variant has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 30972525). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 95 of the RHO protein (p.Leu95Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.
Institute of Human Genetics, University Hospital Muenster RCV002287489 SCV002577849 likely pathogenic Retinal degeneration 2021-11-08 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3,PP4

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