ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1360_1363delinsGGAATCCATG (p.Tyr454_Arg455delinsGlyIleHisGly)

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 RCV002914665 SCV003266618 uncertain significance Retinoblastoma 2021-12-24 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1360_1363delinsGGAATCCATG, is a complex sequence change that results in the deletion of 2 and insertion of 4 amino acid(s) in the RB1 protein (p.Tyr454_Arg455delinsGlyIleHisGly).

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.