ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.54_76dup (p.Pro26fs) (rs1555279210)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492663 SCV000580778 pathogenic Hereditary cancer-predisposing syndrome 2012-10-02 criteria provided, single submitter clinical testing
Invitae RCV000697493 SCV000826107 pathogenic Retinoblastoma 2018-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro26Argfs*47) in the RB1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 428668). Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). For these reasons, this variant has been classified as Pathogenic.

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