ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.98dup (p.Glu34fs)

dbSNP: rs1952054473
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048241 SCV001212234 pathogenic Retinoblastoma 2019-05-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu34Argfs*15) in the RB1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in an individual affected with bilateral retinoblastoma (RB), as well as his father who had unilateral RB (PMID: 17960112). It is also known as g.2157dupC in the literature. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365).

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.