ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) (rs121913303)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000114733 SCV000551833 pathogenic Retinoblastoma 2018-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 552 (p.Arg552*) of 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. This particular variant has been reported in the literature in several individuals affected with retinoblastoma (PMID: 7704558, 27582626, 22219649, 24791139, 25754945). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000492730 SCV000580767 pathogenic Hereditary cancer-predisposing syndrome 2017-09-15 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)
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine RCV000114733 SCV000087356 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided research
Database of Curated Mutations (DoCM) RCV000114733 SCV000504839 likely pathogenic Retinoblastoma 2015-07-14 no assertion criteria provided literature only

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