ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) (rs199840367)

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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000432643 SCV000891881 likely pathogenic not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000432643 SCV000525066 likely pathogenic not provided 2018-04-26 criteria provided, single submitter clinical testing The G2313C variant in the USH2A gene has been reported previously in association with nonsyndromic retinitis pigmentosa (Sharon et al., 2015; Bravo-Gil et al., 2016). The G2313C variant has also been reported in an individual with pericentral retinitis pigmentosa, however this individual also harbored two additional variants in the USH2A gene and segregation studies were not performed to confirm the phase of these variants (Comander et al., 2017). The G2313C variant is observed in 26/126,258 (0.0206%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). The G2313C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Missense variants in a nearby residue (C2309R, C2309F) have been reported in the Human Gene Mutation Database in association with USH2A-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret G2313C as a likely 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.