ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) (rs762551629)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000598390 SCV000706342 likely pathogenic not provided 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV000598390 SCV001585913 pathogenic not provided 2020-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln347*) in the USH1C gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762551629, ExAC 0.01%). This variant has not been reported in the literature in individuals with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 500413). Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000984228 SCV001132304 likely pathogenic Usher syndrome, type 1C 2017-01-17 no assertion criteria provided clinical testing
Counsyl RCV000984229 SCV001132305 likely pathogenic Deafness, autosomal recessive 18 2017-01-17 no assertion criteria provided 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.