ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.532G>A (p.Val178Ile)

dbSNP: rs2129255381
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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 RCV001979465 SCV002256032 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-11 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 178 of the CNTNAP2 protein (p.Val178Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is not present in population databases (ExAC no frequency).

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