Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation

• Ashley Paquin, BA,
• Dan Ye, MD,
• David J. Tester, BS,
• Jamie D. Kapplinger, BA,
• Michael T. Zimmermann, PhD,
• Michael J. Ackerman, MD, PhD

Affiliations

Ashley Paquin, BA

Mayo Clinic School of Medicine, Mayo Clinic, Rochester, Minnesota

Dan Ye, MD

Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota

David J. Tester, BS

Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota

Jamie D. Kapplinger, BA

Mayo Clinic School of Medicine, Mayo Clinic, Rochester, Minnesota

Michael T. Zimmermann, PhD

Department of Biomedical Informatics, Mayo Clinic, Rochester, Minnesota

Michael J. Ackerman, MD, PhD

Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota