ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.700del (p.Gln234fs)

dbSNP: rs2087597945
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
Breda Genetics srl RCV001078181 SCV001190342 likely pathogenic Transcobalamin II deficiency 2019-11-12 criteria provided, single submitter clinical testing The variant creates a shift in the reading frame which is predicted to result in a premature stop codon 21 amino acids downstream, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar.

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.