ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) (rs200024502)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000757173 SCV000293364 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757173 SCV000885308 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing The DNMT1 c.868G>A p.Glu290Lys variant (rs200024502), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.02% (identified on 47 out of 246,268 chromosomes), and is classified as a variant of unknown significance in ClinVar (ID: 246059). The glutamic acid at position 290 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.Glu290Lys variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Glu290Lys variant cannot be determined with certainty.
Invitae RCV001082230 SCV001080537 likely benign Hereditary sensory neuropathy type IE 2020-11-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082230 SCV001282175 benign Hereditary sensory neuropathy type IE 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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.