ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3709G>A (p.Asp1237Asn)

gnomAD frequency: 0.00001  dbSNP: rs796052386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187238 SCV000240820 uncertain significance not provided 2014-02-26 criteria provided, single submitter clinical testing p.Asp1237Asn (GAT>AAT): c.3709 G>A in exon 22 of the CNTNAP2 gene (NM_014141.5). The Asp1237Asn 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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Asp1237Asn variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved across species and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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