ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.345C>G (p.Phe115Leu)

dbSNP: rs1579598699
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
Johns Hopkins Genomics, Johns Hopkins University RCV001007599 SCV001167280 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2019-09-19 criteria provided, single submitter clinical testing This TERT variant is absent from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, however the phenylalanine residue at this position is highly evolutionarily conserved across mammals. This variant is considered likely pathogenic.

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.