Total submissions: 1
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. |