ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.80G>A (p.Arg27His)

gnomAD frequency: 0.00017  dbSNP: rs199473045
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV001842412 SCV005424025 likely benign Cardiac arrhythmia 2024-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415517 SCV002677664 likely benign Cardiovascular phenotype 2021-01-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000987245 SCV001433342 uncertain significance Brugada syndrome 1 2019-10-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842412 SCV001354424 likely benign Cardiac arrhythmia 2019-03-07 criteria provided, single submitter clinical testing
Mendelics RCV000987245 SCV001136495 likely benign Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713149 SCV000843728 likely benign not provided 2017-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713149 SCV000291835 likely benign not provided 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000713149 SCV000235314 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing Functional studies in mammalian cells showed that R27H causes a shift in mid-activation potential and slower channel inactivation at a less depolarized membrane potential, however R27H behaved similarly to wild type when expressed in frog oocytes (Gutter et al., 2013).; This variant is associated with the following publications: (PMID: 19716085, 23805106, 22984773, 26538325, 22840528, 11901046, 29247119, 27435932, 29728395, 30662450, 30291343)
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000713149 SCV001972966 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000713149 SCV001953334 uncertain significance not provided no assertion criteria provided clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000713149 SCV000280484 likely benign not provided 2016-12-29 no assertion criteria provided provider interpretation update: reclassified variant to likely benign because of presence in 0.2% of alleles from Latinos in ExAC.
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences RCV000234990 SCV000263114 pathogenic Death in infancy 2015-03-27 no assertion criteria provided clinical testing
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058846 SCV000090366 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:11901046;PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.