ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2205C>A (p.Asn735Lys)

gnomAD frequency: 0.00071  dbSNP: rs200610099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187203 SCV000240784 uncertain significance not provided 2012-12-27 criteria provided, single submitter clinical testing p.Asn735Lys (AAC>AAA): c.2205 C>A in exon 14 of the CNTNAP2 gene (NM_014141.4). The Asn735Lys missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid substitution is non-conservative, as an uncharged Asparagine residue is replaced by a positively charged Lysine residue. It alters a highly conserved position in the CNTNAP2 gene, although missense mutations have not been reported in this region of the protein in association with epilepsy. Several in silico algorithms predict Asn735Lys may be damaging to protein structure/function, although another model predicts it may be benign. Therefore, based on the currently available information, it is unclear whether Asn735Lys is a disease-causing mutation or a rare benign variant.The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001517906 SCV001726506 benign Cortical dysplasia-focal epilepsy syndrome 2025-02-03 criteria provided, single submitter clinical testing

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