ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1833A>G (p.Arg611=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004017164 SCV004844703 uncertain significance Retinoblastoma 2023-06-08 criteria provided, single submitter clinical testing This synonymous variant is located in the first codon of exon 19 in the RB1 protein. Splice site prediction tools suggest that this variant may impact RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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