ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14027A>G (p.Gln4676Arg) (rs397517987)

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
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000627015 SCV000747718 uncertain significance Joubert syndrome; Congenital cerebellar hypoplasia; Motor delay; Delayed speech and language development; Amblyopia; Hypoplasia of the brainstem; Congenital sensorineural hearing impairment; Cerebellar hemisphere hypoplasia 2017-01-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041748 SCV000065444 likely benign not specified 2012-05-15 criteria provided, single submitter clinical testing The Gln4676Arg variant (USH2A) has not been reported in the literature nor previ ously identified by our laboratory. However, computational analyses (biochemical amino acid properties, homology, PolyPhen2, SIFT, AlignGVGD) do not suggest a h igh likelihood of impact to the protein. Of note, chicken and frogs have Arginin e (Arg) at this position. In summary, the lack of conservation suggests that thi s variant is likely benign.

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.