ClinVar Miner

Submissions for variant NM_001012720.2(RGR):c.236G>A (p.Arg79Gln)

gnomAD frequency: 0.00003  dbSNP: rs761554381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043934 SCV001207705 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing This sequence change affects codon 79 of the RGR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RGR protein. This variant also falls at the last nucleotide of exon 2, which is part of the consensus splice site for this exon. This variant is present in population databases (rs761554381, gnomAD 0.01%). This variant has been observed in individual(s) with cone dystrophy and/or inherited retinal disease (PMID: 27748892, 33546218). This variant is also known as p.Arg79His. ClinVar contains an entry for this variant (Variation ID: 841667). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Institute of Medical Molecular Genetics, University of Zurich RCV001352959 SCV001548030 likely pathogenic Retinitis pigmentosa 44 2021-01-30 criteria provided, single submitter clinical testing

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