ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) (rs121913301)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492492 SCV000580766 pathogenic Hereditary cancer-predisposing syndrome 2017-03-01 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 RCV000013951 SCV000853201 pathogenic Retinoblastoma 2016-05-11 criteria provided, single submitter clinical testing This is a nonsense alteration in which a C is replaced by a T at coding position 1072 and is predicted to change an Arginine to a premature stop codon at codon 358.
Database of Curated Mutations (DoCM) RCV000013951 SCV000504838 likely pathogenic Retinoblastoma 2015-07-14 no assertion criteria provided literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725187 SCV000334770 pathogenic not provided 2015-09-02 criteria provided, single submitter clinical testing
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine RCV000013951 SCV000087370 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided research
Invitae RCV000013951 SCV000551815 pathogenic Retinoblastoma 2017-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 358 (p.Arg358*) 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 individuals affected with unilateral or bilateral retinoblastoma (PMID: 22328814, 7795591, 25928201, 27582626, 22219649, 24078560, 24791139, 26530098). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013951 SCV000034198 pathogenic Retinoblastoma 1989-12-21 no assertion criteria provided literature only

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