ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val)

gnomAD frequency: 0.00004  dbSNP: rs140932384
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 RCV001037308 SCV001200717 uncertain significance not provided 2021-11-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 792 of the CNGB3 protein (p.Ala792Val). This variant is present in population databases (rs140932384, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 836233). 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 not expected to disrupt CNGB3 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.
Ambry Genetics RCV003259037 SCV003946685 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.2375C>T (p.A792V) alteration is located in exon 18 (coding exon 18) of the CNGB3 gene. This alteration results from a C to T substitution at nucleotide position 2375, causing the alanine (A) at amino acid position 792 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827223 SCV002075547 uncertain significance Achromatopsia 2020-02-13 no assertion criteria provided clinical testing

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.