ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3920C>T (p.Ala1307Val)

gnomAD frequency: 0.00011  dbSNP: rs149487593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060083 SCV001224745 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1307 of the CNTNAP2 protein (p.Ala1307Val). This variant is present in population databases (rs149487593, gnomAD 0.05%). 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: 854933). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C25"). 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 RCV001593235 SCV001814175 uncertain significance not provided 2019-04-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002374947 SCV002623730 uncertain significance Inborn genetic diseases 2017-09-29 criteria provided, single submitter clinical testing The p.A1307V variant (also known as c.3920C>T), located in coding exon 24 of the CNTNAP2 gene, results from a C to T substitution at nucleotide position 3920. The alanine at codon 1307 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species; however, valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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