ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2238C>A (p.Asp746Glu)

dbSNP: rs375648820
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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 RCV002022503 SCV002295873 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 746 of the CNTNAP2 protein (p.Asp746Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs375648820, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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