ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1822G>A (p.Asp608Asn) (rs796052771)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188254 SCV000241864 uncertain significance not provided 2012-11-01 criteria provided, single submitter clinical testing The Asp648Asn missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Asp648Asn in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a negatively charged Aspartic acid residue is replaced by an uncharged Asparagine residue. Asp648Asn alters a highly conserved position in a laminin G domain of the neurexin1 protein. However, other missense mutations in this region of the protein have not been reported and while one in silico algorithm predicts Asp648Asn may be damaging to the structure/function of the neurexin1 protein, other models predict it may be benign. Therefore, based on the currently available information, it is unclear whether Asp648Asn is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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