ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.1020G>A (p.Thr340=) (rs559747229)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756598 SCV000884460 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing The RHO c.1020G>A; p.Thr340Thr variant (rs559747229) is reported in the medical literature in an individual with retinitis pigmentosa, but the variant was not described further (Chan 2001). The variant is listed in the Genome Aggregation Database in 13 out of 246,200 alleles, indicating it is not a common polymorphism. This is a synonymous variant in a weakly nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Considering available information, this variant is classified as likely benign. References: Chan WM et al. Rhodopsin mutations in Chinese patients with retinitis pigmentosa. Br J Ophthalmol. 2001 Sep;85(9):1046-8.
Invitae RCV000756598 SCV001201595 uncertain significance not provided 2020-10-14 criteria provided, single submitter clinical testing This sequence change affects codon 340 of the RHO mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RHO protein. This variant is present in population databases (rs559747229, ExAC 0.03%). This variant has not been reported in the literature in individuals with RHO-related conditions. ClinVar contains an entry for this variant (Variation ID: 618347). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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