ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.702G>C (p.Leu234Phe)

gnomAD frequency: 0.00001  dbSNP: rs754359147
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 RCV002532334 SCV000824369 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-11 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001775147 SCV002012372 uncertain significance Dyskeratosis congenita 2021-08-19 criteria provided, single submitter clinical testing The TERT c.702G>C (p.Leu234Phe) missense change has a maximum subpopulation frequency of 0.0063% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/5-1294299-C-G). This variant occurs in a gene where missense variants are more likely to be damaging based on methods described by Lek et al. (PP2; PMID: 27535533). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with clinical features of dyskeratosis congenita. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PP2, BP4.
Ambry Genetics RCV001775147 SCV002666597 uncertain significance Dyskeratosis congenita 2022-03-16 criteria provided, single submitter clinical testing The p.L234F variant (also known as c.702G>C), located in coding exon 2 of the TERT gene, results from a G to C substitution at nucleotide position 702. The leucine at codon 234 is replaced by phenylalanine, an amino acid with highly 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.

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.