ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.2308A>G (p.Lys770Glu)

dbSNP: rs2146088364
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001943612 SCV002194132 uncertain significance Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2021-04-08 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of DNMT3B-related conditions (PMID: 21559330). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 770 of the DNMT3B protein (p.Lys770Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.

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.