ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.569C>A (p.Ala190Asp)

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
Ambry Genetics RCV004560158 SCV003970060 uncertain significance Dyskeratosis congenita 2024-10-14 criteria provided, single submitter clinical testing The p.A190D variant (also known as c.569C>A), located in coding exon 2 of the TERT gene, results from a C to A substitution at nucleotide position 569. The alanine at codon 190 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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.