ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) (rs3092891)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492544 SCV000580852 pathogenic Hereditary cancer-predisposing syndrome 2017-07-07 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000013946 SCV000853191 pathogenic Retinoblastoma 2016-06-17 criteria provided, single submitter clinical testing This is a nonsense alteration in which a C is replaced by a T at coding position 1333 and is predicted to change an Arginine at codon 445 to a premature stop codon.
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine RCV000013946 SCV000087353 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided clinical testing
Invitae RCV000013946 SCV000629276 pathogenic Retinoblastoma 2018-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg445*) 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 unilateral or bilateral retinoblastoma (PMID: 2594029, 26787237, 27582626, 24791139, 24688104, 22963398, 25754945). ClinVar contains an entry for this variant (Variation ID: 13071). Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013946 SCV000034193 pathogenic Retinoblastoma 1989-12-21 no assertion criteria provided literature only

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