ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2387del (p.Val796fs)

dbSNP: rs2145432198
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 RCV001942238 SCV002232617 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed as heterozygous in individual(s) with bone marrow failure and short telomeres (PMID: 28507545). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val796Alafs*4) in the RTEL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374).

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.