ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu) (rs879253994)

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 RCV000235255 SCV000293098 pathogenic not provided 2015-08-25 criteria provided, single submitter clinical testing The A1632E missense variant in the SCN9A gene has been reported previously as a de novo variant in a patient with characteristics of both inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD) (Estacion et al., 2008). Functional analysis shows that A1632E alters channel function and results in neuronal hyperexciability (Estacion et al., 2008). The A1632E 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. It is a non-conservative amino acid substitution that occurs at a highly conserved position in between the S4 and S5 transmembrane segments of the forth homologous domain.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000500437 SCV000598128 pathogenic Paroxysmal extreme pain disorder 2017-02-13 criteria provided, single submitter clinical testing

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.