ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) (rs869025520)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208454 SCV000264208 likely pathogenic Brugada syndrome 2015-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000213225 SCV000279314 pathogenic not provided 2017-02-08 criteria provided, single submitter clinical testing The Q1118X pathogenic variant in the SCN5A gene has been previously reported in association with Brugada syndrome and collectively has been absent from up to 1,400 reference alleles (Priori et al, 2002; Crotti et al., 2012; Sommariva et al., 2013). Furthermore, the Q1118X variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Q1118X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the SCN5A gene have been reported in the Human Gene Mutation Database in association with Brugada syndrome or SCN5A-related disorders (Stenson et al., 2014).
Invitae RCV000208454 SCV001580859 pathogenic Brugada syndrome 2020-05-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1118*) in the SCN5A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Brugada syndrome (PMID: 11901046, 23276942). ClinVar contains an entry for this variant (Variation ID: 222808). Loss-of-function variants in SCN5A are known to be pathogenic (PMID: 20129283, 22789973). For these reasons, this variant has been classified as Pathogenic.

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.