ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.302-19C>A

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 RCV002670972 SCV002982514 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958685 SCV005487428 uncertain significance Inborn genetic diseases 2024-09-17 criteria provided, single submitter clinical testing The c.302-19C>A intronic alteration results from a C to A substitution 19 nucleotides before exon 4 (coding exon 3) of the RTEL1 gene. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is not well conserved in available vertebrate species. RNA studies have demonstrated that this alteration results in a splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site. Based on insufficient or conflicting evidence, the clinical significance of this alteration 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.