ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3902C>T (p.Ala1301Val)

gnomAD frequency: 0.00001  dbSNP: rs776987592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592187 SCV000702128 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000644723 SCV000766426 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-18 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 1301 of the CNTNAP2 protein (p.Ala1301Val). This variant is present in population databases (rs776987592, gnomAD 0.003%). 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: 497544). 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 RCV000592187 SCV002599658 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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