ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[1] (p.2300_2302DQL[1]) (rs587784440)

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 RCV000189555 SCV000243198 pathogenic not provided 2018-10-05 criteria provided, single submitter clinical testing The c.6908_6916delACCAGCTGG variant has been previously reported as de novo in an individual with focal seizures, intellectual disability, and ADHD (Parrini et al., 2017). This variant has also been observed as de novo in an individual with a similar phenotype previously tested at GeneDx. The c.6908_6916delACCAGCTGG variant causes an in-frame deletion of 3 amino acids in a region of the protein that is highly conserved across species. In addition, previously reported pathogenic variants in SPTAN1 include in-frame deletions or duplications located within the last four spectrin repeats of the protein, which are essential for dimerization (Saitsu et al., 2010), and this variant is within this region. The c.6908_6916delACCAGCTGG variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is considered a pathogenic variant.
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000416957 SCV000494543 likely pathogenic Focal epilepsy 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.