ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2053C>T (p.Gln685Ter) (rs878853949)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492351 SCV000580880 pathogenic Hereditary cancer-predisposing syndrome 2014-06-27 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)
Invitae RCV000234228 SCV000284620 pathogenic Retinoblastoma 2016-03-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 685 (p.Gln685*) of the RB1 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in RB1 are known to be pathogenic. This particular truncation has been reported in an individual affected with retinoblastoma (PMID: 11333669). For these reasons, this variant has been classified as Pathogenic.

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.