ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2449G>A (p.Ala817Thr)

gnomAD frequency: 0.00003  dbSNP: rs778051907
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 RCV002534756 SCV000943486 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559676 SCV002731542 uncertain significance Dyskeratosis congenita 2022-04-02 criteria provided, single submitter clinical testing The p.A817T variant (also known as c.2449G>A), located in coding exon 8 of the TERT gene, results from a G to A substitution at nucleotide position 2449. The alanine at codon 817 is replaced by threonine, an amino acid with 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.
Baylor Genetics RCV004569603 SCV005052971 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2024-02-21 criteria provided, single submitter clinical testing

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.