ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=) (rs374841430)

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 RCV000757175 SCV000885311 likely benign not provided 2018-01-11 criteria provided, single submitter clinical testing The p.Thr756Thr variant (rs374841430) does not alter the amino acid sequence of the DNMT1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with hearing loss in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.02 percent in the East Asian population (identified on 4 out of18, 870 chromosomes). Based on these observations, the p.Thr756Thr variant is likely to be benign.
Invitae RCV000649378 SCV000771205 likely benign Hereditary sensory neuropathy type IE 2017-10-10 criteria provided, single submitter 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.