ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.55-2A>C

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
New York Genome Center RCV001255020 SCV001431110 likely pathogenic Autistic disorder of childhood onset; Focal seizures; Intellectual disability 2019-11-12 no assertion criteria provided clinical testing This variant substitutes a completely conserved adenine for cytosine at the canonical splice acceptor site within intron 1/19. This variant is absent from gnomAD and ExAC suggesting it is not a common benign variant in the populations represented in these databases. To our current knowledge has not been reported in affected individuals in the literature, however other nonsense, frameshift, and canonical splice variants have been reported. This variant was identified de novo in an individual referred for clinical WGS testing in our laboratory.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001270389 SCV001450671 likely pathogenic Intellectual disability, autosomal dominant 50 2020-04-20 no assertion criteria provided 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.