ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)

gnomAD frequency: 0.00006  dbSNP: rs140638938
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415352 SCV000492720 uncertain significance Nystagmus; Abnormal electroretinogram 2014-07-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487886 SCV000575086 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078961 SCV001098551 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-29 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198299 SCV001369183 uncertain significance Choroidal dystrophy, central areolar, 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. This variant was inherited from a parent.
PreventionGenetics, part of Exact Sciences RCV004748751 SCV005359837 uncertain significance GUCY2D-related disorder 2024-09-06 no assertion criteria provided clinical testing The GUCY2D c.1315G>A variant is predicted to result in the amino acid substitution p.Gly439Arg. This variant was reported in an individual with Familial exudative vitreoretinopathy & high myopia (Supplemental Table 2, Wang et al. 2019. PubMed ID: 31106028). This variant is reported in 0.23% of alleles in individuals of South Asian descent in gnomAD. Although we suspect this variant may be benign, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.