ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1363C>A (p.Arg455=)

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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 RCV004017162 SCV004844664 uncertain significance Retinoblastoma 2023-04-03 criteria provided, single submitter clinical testing This synonymous variant causes a C>A nucleotide change at residue 455 of the RB1 gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. However, this prediction has not been confirmed in published RNA studies. 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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