ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His)

dbSNP: rs372005126
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002014222 SCV002301913 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2021-09-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 540 of the GUCY2D protein (p.Arg540His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
Ambry Genetics RCV004046689 SCV004879617 uncertain significance Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing The c.1619G>A (p.R540H) alteration is located in exon 7 (coding exon 6) of the GUCY2D gene. This alteration results from a G to A substitution at nucleotide position 1619, causing the arginine (R) at amino acid position 540 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.