ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2456A>G (p.Glu819Gly)

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
Ambry Genetics RCV004962446 SCV005492523 uncertain significance Inborn genetic diseases 2024-11-17 criteria provided, single submitter clinical testing The p.E819G variant (also known as c.2456A>G), located in coding exon 26 of the RTEL1 gene, results from an A to G substitution at nucleotide position 2456. The glutamic acid at codon 819 is replaced by glycine, an amino acid with similar 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.
Fulgent Genetics, Fulgent Genetics RCV005038868 SCV005663932 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-03-06 criteria provided, single submitter 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.