ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1485G>T (p.Lys495Asn)

gnomAD frequency: 0.00002  dbSNP: rs374414558
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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 RCV001222470 SCV001394569 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 495 of the CNTNAP2 protein (p.Lys495Asn). This variant is present in population databases (rs374414558, gnomAD 0.1%). 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: 950703). 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 tolerated. 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 RCV004590240 SCV005078169 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24807205)

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