ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.2369G>A (p.Arg790His)

gnomAD frequency: 0.00002  dbSNP: rs375516599
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002633 SCV001160616 uncertain significance Retinitis pigmentosa 43 2019-06-19 criteria provided, single submitter clinical testing The PDE6A c.2369G>A; p.Arg790His variant (rs375516599), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the general population with an allele frequency of 0.01% (32/282858 alleles) in the Genome Aggregation Database. The amino acid at this position is highly conserved and computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of this variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860517 SCV002196037 uncertain significance not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 790 of the PDE6A protein (p.Arg790His). This variant is present in population databases (rs375516599, gnomAD 0.09%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 33946315). ClinVar contains an entry for this variant (Variation ID: 812056). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PDE6A protein function. 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.

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.