ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2137G>A (p.Glu713Lys)

gnomAD frequency: 0.00003  dbSNP: rs201178948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644722 SCV000766425 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 713 of the CNTNAP2 protein (p.Glu713Lys). This variant is present in population databases (rs201178948, gnomAD 0.02%). 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: 536327). 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 C55"). 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.
GeneDx RCV002275110 SCV002562337 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004025669 SCV004929302 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.2137G>A (p.E713K) alteration is located in exon 14 (coding exon 14) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 2137, causing the glutamic acid (E) at amino acid position 713 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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