ClinVar Miner

Submissions for variant NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter)

dbSNP: rs121434585
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001386994 SCV001587460 pathogenic not provided 2021-01-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GNAT2 are known to be pathogenic (PMID: 12077706). This variant has been observed in individual(s) with achromatopsia (PMID: 12077706). ClinVar contains an entry for this variant (Variation ID: 15922). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln79*) in the GNAT2 gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000017273 SCV000037545 pathogenic Achromatopsia 4 2002-08-01 no assertion criteria provided literature only
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000017273 SCV000891377 pathogenic Achromatopsia 4 2018-06-12 no assertion criteria provided research

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.