ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.616A>T (p.Ser206Cys)

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
Ambry Genetics RCV004559403 SCV002654530 uncertain significance Dyskeratosis congenita 2022-01-30 criteria provided, single submitter clinical testing The p.S206C variant (also known as c.616A>T), located in coding exon 2 of the TERT gene, results from an A to T substitution at nucleotide position 616. The serine at codon 206 is replaced by cysteine, an amino acid with dissimilar 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.