ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1025G>A (p.Arg342Gln)

gnomAD frequency: 0.00006  dbSNP: rs773366454
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002547117 SCV000815500 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559356 SCV002689827 uncertain significance Dyskeratosis congenita 2022-02-02 criteria provided, single submitter clinical testing The p.R342Q variant (also known as c.1025G>A), located in coding exon 2 of the TERT gene, results from a G to A substitution at nucleotide position 1025. The arginine at codon 342 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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.