ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)

gnomAD frequency: 0.00001  dbSNP: rs61750161
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 RCV001047937 SCV001211922 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg660*) 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 (rs61750161, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis (PMID: 24997176). ClinVar contains an entry for this variant (Variation ID: 98554). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000084847 SCV000116983 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250870 SCV001426362 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.