ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.404C>A (p.Ala135Glu)

dbSNP: rs2129255279
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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 RCV001971486 SCV002258972 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-06-29 criteria provided, single submitter clinical testing 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 C0"). 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). This sequence change replaces alanine with glutamic acid at codon 135 of the CNTNAP2 protein (p.Ala135Glu). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and glutamic acid.

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