ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.934C>T (p.Gln312Ter)

dbSNP: rs1578281136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001873211 SCV002237067 pathogenic not provided 2023-08-05 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 28559085, 30718709). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln312*) in the RHO gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the RHO protein. ClinVar contains an entry for this variant (Variation ID: 636086). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this premature translational stop signal affects RHO function (PMID: 30977563). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787686 SCV000926678 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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