ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1359G>C (p.Leu453Phe)

gnomAD frequency: 0.00004  dbSNP: rs781466709
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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 RCV001043706 SCV001207465 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 453 of the CNTNAP2 protein (p.Leu453Phe). This variant is present in population databases (rs781466709, gnomAD 0.07%). 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: 841475). 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: "Probably Damaging"; 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.
Ambry Genetics RCV002552534 SCV003645371 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.1359G>C (p.L453F) alteration is located in exon 9 (coding exon 9) of the CNTNAP2 gene. This alteration results from a G to C substitution at nucleotide position 1359, causing the leucine (L) at amino acid position 453 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004726820 SCV005331737 uncertain significance not provided 2024-02-13 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

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