ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.390T>A (p.Asp130Glu)

dbSNP: rs1413930857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776873 SCV002013785 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868815 SCV002255171 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 130 of the CNTNAP2 protein (p.Asp130Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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