ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2807G>A (p.Arg936Gln)

gnomAD frequency: 0.00001  dbSNP: rs763321599
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
Illumina Laboratory Services, Illumina RCV000332650 SCV000410226 uncertain significance Dementia, Deafness, and Sensory Neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001042762 SCV001206464 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 936 of the DNMT1 protein (p.Arg936Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs763321599, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 327898). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002436180 SCV002749040 uncertain significance Inborn genetic diseases 2022-07-07 criteria provided, single submitter clinical testing The p.R920Q variant (also known as c.2759G>A), located in coding exon 27 of the DNMT1 gene, results from a G to A substitution at nucleotide position 2759. The arginine at codon 920 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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.