ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3595G>A (p.Ala1199Thr)

gnomAD frequency: 0.00006  dbSNP: rs727503878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192904 SCV000247063 uncertain significance not specified 2014-11-10 criteria provided, single submitter clinical testing
Invitae RCV000806480 SCV000946484 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1199 of the CNTNAP2 protein (p.Ala1199Thr). This variant is present in population databases (rs727503878, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 210743). 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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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