ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.219G>C (p.Glu73Asp) (rs201031680)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188260 SCV000241870 uncertain significance not provided 2013-08-23 criteria provided, single submitter clinical testing The E73D variant 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 6,200 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 substitution alters a conserved position in the first laminin G domain of neurexin-1 protein. However, the E73D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in silico analysis predicts this variant likely does not alter the protein structure/function. Missense mutations in nearby residues have not been reported. Therefore, the clinical and molecular information available at this time suggests that the E73D variant is likely non-pathogenic; however, the possibility that it is a disease-associated mutation cannot be completely excluded. The variant is found in NRXN1 panel(s).

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