ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1743dup (p.Pro582fs)

dbSNP: rs2138327123
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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 RCV001989795 SCV002233401 pathogenic Retinoblastoma 2021-04-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RB1-related conditions. This sequence change creates a premature translational stop signal (p.Pro582Thrfs*3) 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).

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