ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725187 SCV000334770 pathogenic not provided 2015-09-02 criteria provided, single submitter clinical testing
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.
Ambry Genetics RCV000492492 SCV000580766 pathogenic Hereditary cancer-predisposing syndrome 2019-03-11 criteria provided, single submitter clinical testing 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.
OMIM RCV000013951 SCV000034198 pathogenic Retinoblastoma 1989-12-21 no assertion criteria provided literature only
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine RCV000013951 SCV000087370 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided research
Database of Curated Mutations (DoCM) RCV000013951 SCV000504838 likely pathogenic Retinoblastoma 2015-07-14 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.