ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2138A>G (p.Gln713Arg)

gnomAD frequency: 0.00001  dbSNP: rs1554955501
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 RCV000578867 SCV000681189 uncertain significance not provided 2017-12-08 criteria provided, single submitter clinical testing The Q713R variant in the USH1C gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q713R variant is not observed in large population cohorts (Lek et al., 2016). The Q713R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret Q713R as a variant of uncertain significance.

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.