ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2638G>A (p.Asp880Asn)

gnomAD frequency: 0.00001  dbSNP: rs369872780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001872842 SCV002143165 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-06-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs369872780, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 880 of the CNTNAP2 protein (p.Asp880Asn). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15").
PreventionGenetics, part of Exact Sciences RCV003401809 SCV004111991 uncertain significance CNTNAP2-related disorder 2023-02-28 criteria provided, single submitter clinical testing The CNTNAP2 c.2638G>A variant is predicted to result in the amino acid substitution p.Asp880Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-147844666-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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