Please enter your gene and amino acid of interest to obtain the signal-to-noise (S:N) value for a given amino acid residue.
If your disease of interest does not appear after your search, DiscoVari has not been validated for that gene-disease pair yet.
Disclaimer: DiscoVari is currently designed as a research tool and should not be used clinically as a diagnostic tool.
DiscoVari has been validated for missense variants in arrhythmogenic cardiomyopathy (PKP2, DSC2, DSG2, DSP), catecholaminergic polymorphic ventricular tachycardia (RYR2), long QT syndrome (KCNQ1, KCNH2, SCN5A), and hypertrophic cardiomyopathy (MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TPM1, MYL2, MYL3). It has been validated for cardiomyopathy-associated truncating variants in TTN.
Further validation is needed prior to its incorporation into clinical variant interpretation and decision making.
© Copyright 2022. Duke University. All Rights Reserved. Developed at Dr. Andrew Landstrom's lab with collaboration from the Department of Pediatrics at Duke University's School of Medicine. DiscoVari is intended for noncommercial research and/or academic use only. All other uses, including for-profit licensing requests, should contact andrew.landstrom@duke.edu or otcquestions@duke.edu for further licensing information.