ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1552C>G (p.Gln518Glu)

gnomAD frequency: 0.00002  dbSNP: rs781568509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296716 SCV001485689 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2024-03-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 518 of the CNTNAP2 protein (p.Gln518Glu). This variant is present in population databases (rs781568509, gnomAD 0.003%). 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: 1000568). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004036043 SCV004929299 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.1552C>G (p.Q518E) alteration is located in exon 10 (coding exon 10) of the CNTNAP2 gene. This alteration results from a C to G substitution at nucleotide position 1552, causing the glutamine (Q) at amino acid position 518 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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