ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2979A>G (p.Ile993Met) (rs796052782)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188285 SCV000241896 uncertain significance not provided 2013-03-25 criteria provided, single submitter clinical testing The Ile1033Met 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 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or among the various ethnic groups studied in the 1000 Genomes Project, indicating it is not a common benign variant in these populations. The amino acid substitution is conservative as both Isoleucine and Methionine are uncharged, non-polar amino acid residues. However, Ile1033Met alters a highly conserved position in one of the laminin G-like domains in the Neurexin-1 protein and multiple in-silico algorithms predict it may be damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Ile1033Met is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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