ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4274G>A (p.Arg1425Gln) (rs201559515)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188242 SCV000241851 uncertain significance not provided 2013-08-29 criteria provided, single submitter clinical testing The Arg1465Gln 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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a positively charged Arginine residue with an uncharged Glutamine residue at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense mutations have not been reported in this region of the protein. Therefore, based on the currently available information, it is unclear whether Arg1465Gln is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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