ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9842G>T (p.Cys3281Phe) (rs727504654)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155917 SCV000205628 uncertain significance not specified 2013-09-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Cys3281Phe variant in USH2A has been previously reported in an individual with clinical fea tures of Usher syndrome, but a second variant in the USH2A gene was not identifi ed (Le Quesne Stabej 2012). This variant was not observed in large population st udies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant c annot be determined with certainty; however, based upon its presence in an affec ted individual and its absence from the general population, we lean towards a mo re likely pathogenic role.
Counsyl RCV000666703 SCV000791045 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000666703 SCV000894748 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing

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.