ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2456C>A (p.Thr819Asn)

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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 RCV002667506 SCV002985288 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-16 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs771687213, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 819 of the CNTNAP2 protein (p.Thr819Asn).
Ambry Genetics RCV002667507 SCV003636982 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.2456C>A (p.T819N) alteration is located in exon 16 (coding exon 16) of the CNTNAP2 gene. This alteration results from a C to A substitution at nucleotide position 2456, causing the threonine (T) at amino acid position 819 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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