ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.508G>C (p.Val170Leu)

dbSNP: rs387907248
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
GeneDx RCV001552739 SCV001773484 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30523342, 29463756)
Ambry Genetics RCV004822415 SCV005512323 uncertain significance Dyskeratosis congenita 2024-08-07 criteria provided, single submitter clinical testing The p.V170L variant (also known as c.508G>C), located in coding exon 2 of the TERT gene, results from a G to C substitution at nucleotide position 508. The valine at codon 170 is replaced by leucine, an amino acid with highly similar properties. This variant was reported in an individual with features consistent with a telomeropathy(Gutierrez-Rodrigues F et al. Genet Med, 2019 Jul;21:1594-1602). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant 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.