ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) (rs527236101)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001007975 SCV001167705 pathogenic not provided 2019-03-14 criteria provided, single submitter clinical testing The Y60X variant in the RHO gene has been reported previously in association with autosomal dominant retinitis pigmentosa (Eisenberger et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y60X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y60X as a pathogenic variant.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV001265175 SCV001443203 likely pathogenic Retinitis pigmentosa 4 2020-09-01 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132596 SCV000172543 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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