ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.335_339del (p.Glu112fs)

dbSNP: rs1064795438
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
GeneDx RCV000480648 SCV000571241 likely pathogenic not provided 2016-08-11 criteria provided, single submitter clinical testing The c.335_339delAGATG pathogenic variant in the RB1 gene has not been published previously, to our knowledge. The c.335_339delAGATG variant causes a frameshift starting with codon Glutamic Acid 112, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Glu112ValfxX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.335_339delAGATG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, based on the ACMG recommendations, c.335_339delAGATG is interpreted as an expected pathogenic sequence change.

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.