ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg) (rs45475899)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000058503 SCV000235409 uncertain significance not provided 2018-03-28 criteria provided, single submitter clinical testing The G833R variant in the SCN5A gene has been reported in one individual with long QT syndrome (Hedley P et al., 2009). However, functional studies, clinical history, and familial segregation information were not included. The G833R variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project (ESP), indicating it is not a common benign variant in these populations. Amendola et al., 2015 and Olfson et al., 2015 evaluated the G833R in the context of incidental findings and classified it as a variant of uncertain significance. The G833R variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G833R as a variant of uncertain significance.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239085 SCV000297008 uncertain significance Long QT syndrome 3; Brugada syndrome 2015-08-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000058503 SCV000339205 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Invitae RCV001088049 SCV001010477 likely benign Brugada syndrome 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987215 SCV001136464 uncertain significance Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Color RCV001187861 SCV001354761 uncertain significance Arrhythmia 2020-02-13 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058503 SCV000090023 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:19862833).
CSER _CC_NCGL, University of Washington RCV000148860 SCV000190604 uncertain significance Long QT syndrome 2014-06-01 no assertion criteria provided research

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