ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.494A>G (p.Asp165Gly)

dbSNP: rs767592618
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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 RCV001926272 SCV002202654 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2020-12-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 165 of the CNTNAP2 protein (p.Asp165Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs767592618, ExAC 0.006%). This variant has not been reported in the literature in individuals 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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