ClinVar Miner

Submissions for variant NM_001135659.2(NRXN1):c.2627C>T (p.Ala876Val) (rs199557987)

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Total submissions: 3
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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

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