ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) (rs1057518658)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000414894 SCV000328726 pathogenic Autistic disorder of childhood onset 2015-03-13 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GLI2 (NM_005270.4, c.4654A>T) and SCN2A (NM_021007.2, c.2229_2230del) in one individual with reported features of delayed motor milestones, delayed speech, autism, and undermyelination on brain MRI. The SCN2A variant is predicted to cause a frameshift and is categorized as deleterious by ACMGG guidelines [PMID: 18414213].

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.