ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3332C>T (p.Thr1111Met)

gnomAD frequency: 0.00010  dbSNP: rs370686937
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533377 SCV000770722 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-09-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1111 of the TERT protein (p.Thr1111Met). This variant is present in population databases (rs370686937, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TERT-related conditions. ClinVar contains an entry for this variant (Variation ID: 539203). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TERT protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Oncology Research Center, Barretos Cancer Hospital RCV001374479 SCV001438631 uncertain significance Hereditary breast ovarian cancer syndrome 2020-08-01 criteria provided, single submitter research
Baylor Genetics RCV003472037 SCV004203637 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2024-02-12 criteria provided, single submitter clinical testing
GeneDx RCV004768509 SCV005376284 uncertain significance not provided 2023-12-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004735712 SCV005366076 uncertain significance TERT-related disorder 2024-08-13 no assertion criteria provided clinical testing The TERT c.3332C>T variant is predicted to result in the amino acid substitution p.Thr1111Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of Latino descent in gnomAD and is classified as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/539203/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.