ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.366G>T

dbSNP: rs1560578577
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
Invitae RCV000705042 SCV000834021 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2018-08-08 criteria provided, single submitter clinical testing This variant is located within the BoxH/ACA scaRNA domain of the TERC RNA component, which is required for telomerase activity (PMID: 21844345). Functional studies testing the effect of this variant on TERC secondary structure or function have not been reported. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TERC-related disease. 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. This sequence change occurs in the TERC gene, which encodes an RNA molecule that is not translated into a protein product. TERC is a telomerase RNA template component required for telomeric DNA synthesis.

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.