ClinVar Miner

Submissions for variant NM_001010874.5(TECRL):c.435+1_435+97del

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 RCV004676658 SCV005167835 likely pathogenic Cardiovascular phenotype 2024-04-10 criteria provided, single submitter clinical testing The c.435+1_435+97del97 variant results from a deletion of 97 nucleotides between positions c.435+1 and c.435+97 and involves the canonical splice donor site after coding exon 4 of the TECRL gene. The canonical splice donor site is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site; however, the exact impact of this deletion on TECRL splicing and function is currently unknown. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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.