ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.751A>G (p.Arg251Gly)

gnomAD frequency: 0.00001  dbSNP: rs772701367
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 RCV001940505 SCV002192264 uncertain significance PRPH2-related disorder 2021-05-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 251 of the PRPH2 protein (p.Arg251Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PRPH2 protein function. This variant has not been reported in the literature in individuals with PRPH2-related conditions. This variant is present in population databases (rs772701367, ExAC 0.01%).
Ambry Genetics RCV002557794 SCV003622797 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.751A>G (p.R251G) alteration is located in exon 2 (coding exon 2) of the PRPH2 gene. This alteration results from a A to G substitution at nucleotide position 751, causing the arginine (R) at amino acid position 251 to be replaced by a glycine (G). 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.