ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.392T>C (p.Leu131Pro)

dbSNP: rs1553781140
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585361 SCV000693122 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001265185 SCV001443215 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000585361 SCV001590838 pathogenic not provided 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects RHO function (PMID: 30977563). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 493373). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 20164459). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 131 of the RHO protein (p.Leu131Pro).

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