ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2885G>A (p.Arg962His)

gnomAD frequency: 0.00002  dbSNP: rs759490631
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 RCV002530154 SCV000650762 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559205 SCV002750498 uncertain significance Dyskeratosis congenita 2022-05-12 criteria provided, single submitter clinical testing The p.R962H variant (also known as c.2885G>A), located in coding exon 12 of the TERT gene, results from a G to A substitution at nucleotide position 2885. The arginine at codon 962 is replaced by histidine, 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230269 SCV003928111 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-03-15 criteria provided, single submitter clinical testing The TERT c.2885G>A (p.Arg962His) missense change has a maximum subpopulation frequency of 0.0085% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with clinical features of dyskeratosis congenita. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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.