ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.19dup (p.Arg7fs) (rs1131690852)

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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 RCV000492515 SCV000580780 pathogenic Hereditary cancer-predisposing syndrome 2012-12-25 criteria provided, single submitter clinical testing
Invitae RCV000795397 SCV000934860 pathogenic Retinoblastoma 2018-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg7Profs*24) in the RB1 gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with retinoblastoma (PMID: 12541220, 26539030). 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: 428670). 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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