ClinVar Miner

Submissions for variant NM_018400.3(SCN3B):c.389C>T (p.Ala130Val) (rs587777556)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480040 SCV000565530 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing The A130V variant in the SCN3B gene has been reported in a 46 year-old individual from the Han Chinese population with lone atrial fibrillation, however segregation analysis was not performed (Wang et al., 2010). Functional studies show the A130V variant decreased the cardiac sodium current density, but did not have a significant effect on the kinetics of activation, inactivation, and channel recovery from inactivation (Wang et al., 2010). However, when co-expressed with wild type SCN3B, A130V negated the function of wild type SCN3B (Wang et al., 2010). The A130V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A130V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A130V as a variant of uncertain significance.
OMIM RCV000128813 SCV000172471 pathogenic Atrial fibrillation, familial, 16 2010-07-16 no assertion criteria provided literature only

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.