ClinVar Miner

Submissions for variant NM_007363.5(NONO):c.230_231del (p.Phe77fs)

dbSNP: rs1057518476
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 RCV000413763 SCV000492151 pathogenic not provided 2016-12-14 criteria provided, single submitter clinical testing The c.230_231delTT variant in the NONO gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.230_231delTT variant causes a frameshift starting with codon Phenylalanine 77, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Phe77CysfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.230_231delTT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.230_231delTT as a pathogenic variant.

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.