ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) (rs1571657777)

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 RCV001009307 SCV001169130 pathogenic not provided 2019-03-14 criteria provided, single submitter clinical testing The c.11216_11223delTGGAGCCC variant in the USH2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Leucine 3739, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu3739GlnfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This frameshift variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.11216_11223delTGGAGCCC 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.