ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.787del (p.Arg262_Ile263insTer)

dbSNP: rs2138112461
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898449 SCV002158149 pathogenic Retinoblastoma 2021-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile263*) in the RB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RB1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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