ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1891C>T (p.Gln631Ter)

dbSNP: rs1217977493
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066595 SCV001231610 pathogenic Retinoblastoma 2019-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). This variant has been observed in an individual affected with retinoblastoma (PMID: 12955724). This variant is also known as g.153284C>T in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln631*) in the RB1 gene. It is expected to result in an absent or disrupted protein product.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117734 SCV003799553 pathogenic not provided 2022-03-31 criteria provided, single submitter clinical testing The RB1 c.1891C>T; p.Gln631Ter variant (rs1217977493) is reported in the literature in an individual with retinoblastoma (Kiran 2003). The variant is listed in the ClinVar database (Variation ID: 860313), but is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been described in individuals with retinoblastoma and are considered pathogenic (Taylor 2007). Based on available information, this variant is classified as pathogenic. References: Kiran VS et al. Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations. Hum Mutat. 2003 Oct;22(4):339. PMID: 12955724. Taylor M et al. Genotype-phenotype correlations in hereditary familial retinoblastoma. Hum Mutat. 2007 Mar;28(3):284-93. PMID: 17096365.
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine RCV001066595 SCV005046216 pathogenic Retinoblastoma 2024-05-20 criteria provided, single submitter clinical testing Case and Pedigree Information: BILATERAL CASES:1, UNILATERAL CASES:0, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:PVS1, PM2

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.