ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.656_664del (p.Ala219_Glu221del) (rs546508545)

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 RCV000660413 SCV000621274 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing The c.656_664delCGGGCGAGG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.656_664delCGGGCGAGG variant is observed in 13/103158 (0.01%) alleles from individuals of European background (Lek al., 2016). The c.656_664delCGGGCGAGG variant results in an in-frame deletion of three amino acid residues, denoted p.Ala219_Glu221del. However, this deletion involves amino acids that are not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660413 SCV000782500 uncertain significance not provided 2016-09-30 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.