ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2968G>A (p.Asp990Asn)

gnomAD frequency: 0.00001  dbSNP: rs1060503572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460807 SCV000553432 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-12-02 criteria provided, single submitter clinical testing 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 C15"). ClinVar contains an entry for this variant (Variation ID: 412001). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 990 of the CNTNAP2 protein (p.Asp990Asn).
Ambry Genetics RCV002318533 SCV000851195 uncertain significance Inborn genetic diseases 2016-10-19 criteria provided, single submitter clinical testing The p.D990N variant (also known as c.2968G>A), located in coding exon 18 of the CNTNAP2 gene, results from a G to A substitution at nucleotide position 2968. The aspartic acid at codon 990 is replaced by asparagine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. 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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