ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6917_6922GCATGC[3] (p.Arg2308_Met2309dup) (rs796053335)

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 RCV000189545 SCV000243188 pathogenic not provided 2013-08-27 criteria provided, single submitter clinical testing c.6923_6928dupGCATGC: p.Arg2308_Met2309dup (R2308_M2309dup) in exon 53 of the SPTAN1 gene (NM_001130438.1). The normal sequence with the bases that are duplicated in braces is: CATG{CGCATG}. The c.6923_6928dupGCATGC mutation in the SPTAN1 gene has been previously reported as a de novo mutation in an individual with early-onset West syndrome and cerebellar hypomyelination (Saitsu et al., 2010). It results in an in-frame duplication of two highly conserved amino acids in the last spectrin repeat of the protein, and functional studies indicate the c.6923_6928dupGCATGC mutation leads to the aggregation of alpha/beta spectrin heterodimers (Saitsu et al., 2010). Therefore, c.6923_6928dupGCATGC is interpreted as pathogenic. The variant is found in INFANT-EPI panel(s).
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000416988 SCV000494544 pathogenic Epileptic encephalopathy 2016-11-16 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.