ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2794G>A (p.Gly932Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003083455 SCV003459505 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-12-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 932 of the CNTNAP2 protein (p.Gly932Ser). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs375721802, gnomAD 0.008%).

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