ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)

dbSNP: rs866511152
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001071718 SCV001237036 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2019-12-11 criteria provided, single submitter clinical testing Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 29068479). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1022*) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product.

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.