ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2692C>T (p.Gln898Ter) (rs1566241180)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706319 SCV000835361 uncertain significance Retinoblastoma 2018-07-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RB1 gene (p.Gln898*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 31 amino acids of the RB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RB1-related disease. This variant is expected to disrupt the domain C of the RB1 protein, which is required for E4F1 interaction (PMID: 10869426). However, experimental studies are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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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