PT - JOURNAL ARTICLE AU - Jones, Douglas AU - Hartung, Jacob AU - Lasalle, Elizabeth AU - Borquez, Alejandro AU - Murillo, Viridiana AU - Guidugli, Lucia AU - James, Kiely N AU - Kingsmore, Stephen F AU - Coufal, Nicole G TI - Novel variants in <em>TECRL</em> leading to catecholaminergic polymorphic ventricular tachycardia AID - 10.26508/lsa.202402572 DP - 2024 Aug 01 TA - Life Science Alliance PG - e202402572 VI - 7 IP - 8 4099 - http://www.life-science-alliance.org/content/7/8/e202402572.short 4100 - http://www.life-science-alliance.org/content/7/8/e202402572.full SO - Life Sci. Alliance2024 Aug 01; 7 AB - Pathogenic and likely pathogenic variants in the TECRL gene are known to be associated with recessive catecholaminergic polymorphic ventricular tachycardia 3, which can include prolonged QT intervals (MIM#614021). We report a case of cardiac arrest in a previously healthy adolescent male in the community. The patient was found to have a novel maternally inherited likely pathogenic variant in TECRL (c.915T&gt;G [p.Tyr305Ter]) and an additional 19-kb duplication encompassing multiple exons of TECRL (chr4:65165944-65185287, dup [4q13.1]) not identified in the mother. Genetic results were revealed via rapid whole-genome sequencing, which allowed appropriate treatment and prognostication.ClinVar accession number VCV001766009.3, Variation ID: 1766009, and Identifiers NM_001010874.5 (TECRL):c.915T&gt;G (p.Tyr305Ter) are available at https://www.ncbi.nlm.nih.gov/clinvar/variation/1766009/.Ethics statementInformed and signed consent forms were obtained for all sequenced individuals in this study. The project is approved by the Institutional Review Board of the University of California at San Diego and has received non-significant risk status in a pre-Investigational Device Exemption submission to the Food and Drug Administration.