ClinVar Miner

Submissions for variant NC_000003.12:g.169764994del

dbSNP: rs1777964165
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001222798 SCV001394915 pathogenic Dyskeratosis congenita, autosomal dominant 1 2020-04-20 criteria provided, single submitter clinical testing This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product. For these reasons, this variant has been classified as Pathogenic. This variant is located within the template/pseudoknot domain of the TERC RNA component, which is required for RNA or RNP stability (PMID: 15082312, 21844345). A significant number of previously reported TERC variants are found in this region (PMID: 21931702, http://telomerase.asu.edu/diseases.html#tr). Functional studies testing a different change (n.67G>A) have shown reduced telomerase activity (PMID: 21931702). This variant has been observed in a family with clinical features of dyskeratosis congenita (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency).

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.