ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2899del (p.His967fs)

dbSNP: rs61750183
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
Blueprint Genetics RCV001073966 SCV001239531 likely pathogenic Retinal dystrophy 2018-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857414 SCV002240955 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His967Ilefs*11) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant is present in population databases (rs751295073, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 98579). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000084874 SCV000117010 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250883 SCV001426375 pathogenic Leber congenital amaurosis 1 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.