ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) (rs199557987)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174865 SCV000226251 likely benign not specified 2015-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000174865 SCV000241885 uncertain significance not specified 2013-07-14 criteria provided, single submitter clinical testing The Ala876Val missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Ala876Val is a conservative amino acid substitution as both Alanine and Valine are uncharged, non-polar residues. The variant occurs at a position in the fourth lamin G domain of the protein that is conserved through mammals. Two in silico algorithms predict that Ala876Val is benign, while another algorithm predicts that the variant is damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Ala876Val is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Genetic Services Laboratory, University of Chicago RCV000174865 SCV000248280 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
Invitae RCV000868228 SCV001009532 likely benign not provided 2018-05-24 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.