ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2547C>T (p.Gly849=)

gnomAD frequency: 0.00003  dbSNP: rs371353556
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651092 SCV000772942 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-09-03 criteria provided, single submitter clinical testing This sequence change affects codon 849 of the RTEL1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RTEL1 protein. This variant is present in population databases (rs371353556, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 540931). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Natera, Inc. RCV001835052 SCV002095468 uncertain significance Dyskeratosis congenita 2019-11-11 no assertion criteria provided clinical testing

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.