ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.69GCC[5] (p.Pro29dup)

dbSNP: rs587778823
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 RCV000565292 SCV000674732 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-20 criteria provided, single submitter clinical testing The c.78_80dupGCC variant (also known as p.P29dup), located in coding exon 1 of the RB1 gene, results from an in-frame duplication of GCC at nucleotide positions 78 to 80. This results in the duplication of an extra proline residue between codons 29 and 30. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000820387 SCV000961097 uncertain significance Retinoblastoma 2023-11-13 criteria provided, single submitter clinical testing This variant, c.78_80dup, results in the insertion of 1 amino acid(s) of the RB1 protein (p.Pro29dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775630214, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with RB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 486294). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.