ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)

gnomAD frequency: 0.00002  dbSNP: rs765787352
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002554514 SCV001232322 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559893 SCV002609874 uncertain significance Dyskeratosis congenita 2018-01-22 criteria provided, single submitter clinical testing The p.R1084Q variant (also known as c.3251G>A), located in coding exon 15 of the TERT gene, results from a G to A substitution at nucleotide position 3251. The arginine at codon 1084 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693570 SCV005189385 uncertain significance not provided criteria provided, single submitter not provided

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.