ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3281C>T (p.Thr1094Ile)

gnomAD frequency: 0.00001  dbSNP: rs781096937
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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 RCV001917396 SCV002158239 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-10-27 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces threonine, a(n) neutral and polar amino acid, with isoleucine, a(n) neutral and non-polar amino acid, at codon 1094 of the CNTNAP2 protein (p.Thr1094Ile).

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