ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) (rs121913304)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492084 SCV000580816 pathogenic Hereditary cancer-predisposing syndrome 2016-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000114734 SCV000853194 pathogenic Retinoblastoma 2016-03-11 criteria provided, single submitter clinical testing This is a nonsense variant in which a C is replaced by a T at coding position 1666 and is predicted to change an Arginine to a premature stop codon at codon 556.
Database of Curated Mutations (DoCM) RCV000430238 SCV000505676 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine RCV000114734 SCV000087407 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided clinical testing
Invitae RCV000114734 SCV000551823 pathogenic Retinoblastoma 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg556*) in the RB1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with retinoblastoma (PMID: 25602518, 22963398, 24688104). ClinVar contains an entry for this variant (Variation ID: 13090). Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013966 SCV000034213 pathogenic Retinoblastoma, trilateral 1997-01-01 no assertion criteria provided literature only

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