ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1040T>A (p.Ile347Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002389957 SCV002696802 uncertain significance Inborn genetic diseases 2018-01-19 criteria provided, single submitter clinical testing The p.I347N variant (also known as c.1040T>A), located in coding exon 7 of the CNTNAP2 gene, results from a T to A substitution at nucleotide position 1040. The isoleucine at codon 347 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095257 SCV003029241 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 347 of the CNTNAP2 protein (p.Ile347Asn). 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. 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"). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV004763403 SCV005372307 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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