ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln)

gnomAD frequency: 0.00009  dbSNP: rs764412489
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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 RCV000706822 SCV000835895 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 699 of the CNTNAP2 protein (p.Pro699Gln). This variant is present in population databases (rs764412489, 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: 582689). 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 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.
Fulgent Genetics, Fulgent Genetics RCV000765933 SCV000897353 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422612 SCV002725818 uncertain significance Inborn genetic diseases 2019-09-05 criteria provided, single submitter clinical testing The p.P699Q variant (also known as c.2096C>A), located in coding exon 13 of the CNTNAP2 gene, results from a C to A substitution at nucleotide position 2096. The proline at codon 699 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available 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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